المؤلفون: Nomura A; Department of Emergency and Critical Care Medicine, Dokkyo Medical University, Japan.; Department of Cardiovascular Medicine and Nephrology, Dokkyo Medical University Nikko Medical Center, Japan., Otani N; Department of Cardiology, Dokkyo Medical University Nikko Medical Center, Japan., Kokubun A; Department of Cardiovascular Medicine and Nephrology, Dokkyo Medical University Nikko Medical Center, Japan.; Department of Diagnostic and Generalist Medicine, Dokkyo Medical University, Japan., Mizuguchi S; Department of Cardiovascular Medicine and Nephrology, Dokkyo Medical University Nikko Medical Center, Japan., Kawamoto S; Department of Cardiovascular Medicine and Nephrology, Dokkyo Medical University Nikko Medical Center, Japan.; Department of Diagnostic and Generalist Medicine, Dokkyo Medical University, Japan., Tomoe T; Department of Cardiovascular Medicine and Nephrology, Dokkyo Medical University Nikko Medical Center, Japan., Kitahara K; Department of Cardiovascular Medicine and Nephrology, Dokkyo Medical University Nikko Medical Center, Japan., Sugiyama T; Department of Cardiovascular Medicine and Nephrology, Dokkyo Medical University Nikko Medical Center, Japan., Horie Y; Department of Cardiology, Dokkyo Medical University Nikko Medical Center, Japan., Sugimura H; Department of Cardiology, Dokkyo Medical University Nikko Medical Center, Japan., Yasu T; Department of Cardiovascular Medicine and Nephrology, Dokkyo Medical University Nikko Medical Center, Japan.

المصدر: Internal medicine (Tokyo, Japan) [Intern Med] 2024 Jun 15; Vol. 63 (12), pp. 1739-1743. Date of Electronic Publication: 2023 Nov 13.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Japanese Society of Internal Medicine Country of Publication: Japan NLM ID: 9204241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1349-7235 (Electronic) Linking ISSN: 09182918 NLM ISO Abbreviation: Intern Med Subsets: MEDLINE

مواضيع طبية MeSH: Dextrocardia*/diagnostic imaging , Dextrocardia*/complications , Situs Inversus*/diagnostic imaging , Situs Inversus*/complications , Pacemaker, Artificial* , Imaging, Three-Dimensional* , Tomography, X-Ray Computed*, Humans ; Female ; Aged ; Sick Sinus Syndrome/therapy ; Sick Sinus Syndrome/diagnostic imaging ; Sick Sinus Syndrome/complications ; Prosthesis Implantation/methods ; Prosthesis Implantation/instrumentation ; Treatment Outcome

مستخلص: We herein report a 76-year-old woman with situs inversus and dextrocardia who underwent pacemaker implantation for sick sinus syndrome. Situs inversus with dextrocardia, which is frequently associated with cardiovascular malformation, is a rare congenital malformation wherein the thoracic and abdominal viscera are inverted compared with their normal positions. This renders the implantation of cardiac devices an arduous task. We therefore decided to gather preoperative anatomical information on patients with situs inversus and dextrocardia. We used three-dimensional computed tomography to collect preoperative information in order to facilitate the safe implantation of cardiac devices.

المؤلفون: Hirano N; Department of Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Iseki M; Department of Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Nakagawa K; Department of Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Mizuma M; Department of Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Kamei T; Department of Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Matsumoto R; Division of Gastroenterology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Miura S; Division of Gastroenterology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Kume K; Division of Gastroenterology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Masamune A; Division of Gastroenterology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Unno M; Department of Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan. m_unno@surg.med.tohoku.ac.jp.

المصدر: Clinical journal of gastroenterology [Clin J Gastroenterol] 2024 Jun; Vol. 17 (3), pp. 567-574. Date of Electronic Publication: 2024 Apr 12.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Springer Japan Country of Publication: Japan NLM ID: 101477246 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-7265 (Electronic) Linking ISSN: 18657265 NLM ISO Abbreviation: Clin J Gastroenterol Subsets: MEDLINE

مواضيع طبية MeSH: Situs Inversus*/complications , Situs Inversus*/diagnostic imaging , Bile Duct Neoplasms*/complications , Bile Duct Neoplasms*/diagnostic imaging , Bile Duct Neoplasms*/surgery , Cholangiocarcinoma*/complications , Cholangiocarcinoma*/diagnostic imaging , Cholangiocarcinoma*/surgery , Hepatectomy*/methods, Humans ; Male ; Aged ; Bile Ducts, Intrahepatic/diagnostic imaging ; Bile Ducts, Intrahepatic/abnormalities ; Klatskin Tumor/complications ; Klatskin Tumor/surgery ; Klatskin Tumor/diagnostic imaging

مستخلص: Situs inversus totalis is a rare congenital malformation in which organs are positioned in a mirror-image relationship to normal conditions. It often presents with vascular and biliary malformations. Only a few reports have pointed out the surgical difficulties in patients with situs inversus totalis, especially in those with perihilar cholangiocarcinoma. This report describes a 66-year-old male patient who underwent left hemihepatectomy (S5, 6, 7, and 8) with combined resection of the caudate lobe (S1), extrahepatic bile duct, and regional lymph nodes for perihilar cholangiocarcinoma with situs inversus totalis. Cholangiocarcinoma was mainly located in the perihilar area and progressed extensively into the bile duct. Surgery was performed after careful evaluation of the unusual anatomy. Although several vascular anomalies required delicate manipulation, the procedures were performed without major intraoperative complications. Postoperatively, bile leakage occurred, but the patient recovered with drainage treatment. The patient was discharged on the 29th postoperative day. Adjuvant chemotherapy with S-1 was administered for approximately 6 months. There was no recurrence 15 months postoperatively. Appropriate imaging studies and an understanding of unusual anatomy make surgery safe and provide suitable treatment for patients with situs inversus totalis.
(© 2024. Japanese Society of Gastroenterology.)

المؤلفون: Tien DA; University of Medicine and Pharmacy, Vietnam National University, Hanoi, Vietnam.; CardioVascular Center-E Hospital, Hanoi, Vietnam., Bao LT; CardioVascular Center-E Hospital, Hanoi, Vietnam., Phuong DH; CardioVascular Center-E Hospital, Hanoi, Vietnam., Nhu Huyen LT; CardioVascular Center-E Hospital, Hanoi, Vietnam., Thuy NT; University of Medicine and Pharmacy, Vietnam National University, Hanoi, Vietnam.; CardioVascular Center-E Hospital, Hanoi, Vietnam.

المصدر: Asian cardiovascular & thoracic annals [Asian Cardiovasc Thorac Ann] 2024 May; Vol. 32 (4), pp. 231-233. Date of Electronic Publication: 2024 May 20.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Sage Country of Publication: England NLM ID: 9503417 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1816-5370 (Electronic) Linking ISSN: 02184923 NLM ISO Abbreviation: Asian Cardiovasc Thorac Ann Subsets: MEDLINE

مواضيع طبية MeSH: Situs Inversus*/complications , Situs Inversus*/diagnostic imaging , Situs Inversus*/surgery , Dextrocardia*/complications , Dextrocardia*/diagnostic imaging , Dextrocardia*/surgery , Tetralogy of Fallot*/surgery , Tetralogy of Fallot*/diagnostic imaging , Tetralogy of Fallot*/complications , Thoracotomy* , Coronary Vessel Anomalies*/surgery , Coronary Vessel Anomalies*/complications , Coronary Vessel Anomalies*/diagnostic imaging , Abnormalities, Multiple*/surgery, Humans ; Treatment Outcome ; Male ; Cardiac Surgical Procedures

مستخلص: We present a rare case of tetralogy of Fallot accompanied with dextrocardia, situs inversus and anomalous origin of the right coronary artery. Total repair was accomplished successfully using a minimally invasive left axillary thoracotomy.
Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

المؤلفون: Peñaloza S; Department of Internal Medicine, School of Medicine, Universidad de La Frontera, Temuco, Chile., Godoy M; Department of Medical Specialties, School of Medicine, Universidad de La Frontera, Temuco, Chile., Miranda R; Department of Internal Medicine, School of Medicine, Universidad de La Frontera, Temuco, Chile.

المصدر: Pacing and clinical electrophysiology : PACE [Pacing Clin Electrophysiol] 2024 May; Vol. 47 (5), pp. 688-690. Date of Electronic Publication: 2023 Sep 12.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Futura Pub. Co. Country of Publication: United States NLM ID: 7803944 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8159 (Electronic) Linking ISSN: 01478389 NLM ISO Abbreviation: Pacing Clin Electrophysiol Subsets: MEDLINE

مواضيع طبية MeSH: Situs Inversus*/complications , Situs Inversus*/therapy , Cardiac Resynchronization Therapy*/methods , Heart Failure*/therapy, Humans ; Male ; Middle Aged ; Treatment Outcome ; Dextrocardia/diagnostic imaging ; Dextrocardia/complications

مستخلص: Situs inversus totalis (SIT) is a congenital condition in which the major visceral organs are reversed or in a mirror image from their normal positions that affects one per 10,000 live births. It is associated with dextrocardia (DXC) in which the heart is located on the right side of the chest. We present a challenging cardiac resynchronization therapy (CRT) implantation in a 60-year-old man with SIT-DXC, heart failure, extreme bradycardia, wide QRS, and left ventricular (LV) dysfunction. The procedure was complex due to the mirror-image anatomy and the tortuous origin of the coronary sinus (CS) branches that required a subselection catheter for adequate lead implantation.
(© 2023 Wiley Periodicals LLC.)

عنوان ترانسليتريتد: Situs Inversuslu ve Dekstrokardili Bir Hastada Atriyal Fibrilasyonun Kriyobalon ile Ablasyonu.

المؤلفون: Çay S; Division of Arrhythmia and Electrophysiology, Department of Cardiology, University of Health Sciences, Yuksek Ihtisas Cardiovascular Building, Ankara City Hospital, Ankara, Türkiye., Özeke Ö; Division of Arrhythmia and Electrophysiology, Department of Cardiology, University of Health Sciences, Yuksek Ihtisas Cardiovascular Building, Ankara City Hospital, Ankara, Türkiye., Özcan F; Division of Arrhythmia and Electrophysiology, Department of Cardiology, University of Health Sciences, Yuksek Ihtisas Cardiovascular Building, Ankara City Hospital, Ankara, Türkiye., Kara M; Division of Arrhythmia and Electrophysiology, Department of Cardiology, University of Health Sciences, Yuksek Ihtisas Cardiovascular Building, Ankara City Hospital, Ankara, Türkiye., Özcan Çetin EH; Division of Arrhythmia and Electrophysiology, Department of Cardiology, University of Health Sciences, Yuksek Ihtisas Cardiovascular Building, Ankara City Hospital, Ankara, Türkiye., Korkmaz A; Division of Arrhythmia and Electrophysiology, Department of Cardiology, University of Health Sciences, Yuksek Ihtisas Cardiovascular Building, Ankara City Hospital, Ankara, Türkiye., Topaloğlu S; Division of Arrhythmia and Electrophysiology, Department of Cardiology, University of Health Sciences, Yuksek Ihtisas Cardiovascular Building, Ankara City Hospital, Ankara, Türkiye.

المصدر: Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir [Turk Kardiyol Dern Ars] 2024 Jun; Vol. 52 (4), pp. 300-301.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Kare Country of Publication: Turkey NLM ID: 9426239 Publication Model: Print Cited Medium: Internet ISSN: 1308-4488 (Electronic) Linking ISSN: 10165169 NLM ISO Abbreviation: Turk Kardiyol Dern Ars Subsets: MEDLINE

مواضيع طبية MeSH: Atrial Fibrillation*/surgery , Atrial Fibrillation*/complications , Dextrocardia*/diagnostic imaging , Dextrocardia*/complications , Dextrocardia*/surgery , Situs Inversus*/complications , Situs Inversus*/diagnostic imaging , Cryosurgery*/methods, Humans ; Male ; Middle Aged

المؤلفون: Kaspy KR; McGill University Health Centre Research Institute, Montreal Children's Hospital, Montreal, QC., Dell SD; BC Children's Hospital, University of British Columbia, Vancouver, BC., Davis SD; Department of Pediatrics, Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, NC., Ferkol TW; Department of Pediatrics, Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, NC., Rosenfeld M; Department of Pediatrics, Seattle Children's Research Institute, University of Washington School of Medicine, Seattle, WA., Sagel SD; Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO., Milla C; Department of Pediatrics, Stanford University, Palo Alto, CA., Olivier KN; Department of Medicine, Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, NC., Barber AT; Department of Pediatrics, Virginia Commonwealth University, Richmond, VA., Wee W; Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Lin FC; Department of Biostatistics, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC., Li L; Department of Biostatistics, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, NC., Rampakakis E; McGill University Health Centre Research Institute, Montreal Children's Hospital, Montreal, QC., Zariwala MA; Department of Pathology/Lab Medicine, Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, NC., Knowles MR; Department of Medicine, Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, NC., Leigh MW; Department of Pediatrics, Marsico Lung Institute, University of North Carolina School of Medicine, Chapel Hill, NC., Shapiro AJ; McGill University Health Centre Research Institute, Montreal Children's Hospital, Montreal, QC. Electronic address: adam.shapiro@muhc.mcgill.ca.

المصدر: Chest [Chest] 2024 May; Vol. 165 (5), pp. 1070-1081. Date of Electronic Publication: 2023 Dec 09.

نوع المنشور: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0231335 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1931-3543 (Electronic) Linking ISSN: 00123692 NLM ISO Abbreviation: Chest Subsets: MEDLINE

مواضيع طبية MeSH: Situs Inversus*/complications, Humans ; Male ; Female ; Child ; Cross-Sectional Studies ; Adolescent ; Child, Preschool ; Infant ; Young Adult ; Kartagener Syndrome/complications ; Kartagener Syndrome/diagnosis ; Heterotaxy Syndrome/complications ; Severity of Illness Index ; Ciliary Motility Disorders/genetics ; Ciliary Motility Disorders/complications ; Ciliary Motility Disorders/diagnosis

مستخلص: Background: Primary ciliary dyskinesia (PCD) is a rare disorder of motile cilia associated with situs abnormalities. At least 12% of patients with PCD have situs ambiguus (SA), including organ laterality defects falling outside normal arrangement (situs solitus [SS]) or mirror image inversion (situs inversus totalis [SIT]).
Research Question: Do patients with PCD and SA achieve worse clinical outcomes compared with those with SS or SIT?
Study Design and Methods: This cross-sectional, multicenter study evaluated participants aged 21 years or younger with PCD. Participants were classified as having SA, including heterotaxy, or not having SA (SS or SIT). Markers of disease severity were compared between situs groups, adjusting for age at enrollment and severe CCDC39 or CCDC40 genotype, using generalized linear models and logistic and Poisson regression.
Results: In 397 participants with PCD (mean age, 8.4 years; range, 0.1-21), 42 patients were classified as having SA, including 16 patients (38%) with complex cardiovascular malformations or atrial isomerism, 13 patients (31%) with simple CVM, and 13 patients (31%) without cardiovascular malformations. Of these, 15 patients (36%) underwent cardiac surgery, 24 patients (57%) showed an anatomic spleen abnormality, and seven patients (17%) showed both. The remaining 355 participants did not have SA, including 152 with SIT and 203 with SS. Overall, 70 participants (17%) harbored the severe CCDC39 or CCDC40 genotype. Compared with participants without SA, those with SA showed lower median BMI z scores (P = .03), lower FVC z scores (P = .01), and more hospitalizations and IV antibiotic courses for acute respiratory infections during the 5 years before enrollment (P < .01). Participants with cardiovascular malformations requiring surgery or with anatomic spleen abnormalities showed lower median BMI z scores and more hospitalizations and IV therapies for respiratory illnesses compared with participants without SA.
Interpretation: Children with PCD and SA achieve worse nutritional and pulmonary outcomes with more hospitalizations for acute respiratory illnesses than those with SS or SIT combined. Poor nutrition and increased hospitalizations for respiratory infections in participants with SA and PCD are associated with cardiovascular malformations requiring cardiac surgery, splenic anomalies, or both.
Trial Registry: ClinicalTrials.gov; Nos.: NCT02389049 and NCT00323167; URL: www.
Clinicaltrials: gov.
Competing Interests: Financial/Nonfinancial Disclosures The authors have reported to CHEST the following: S. D. Dell, S. D. Davis, T. W. F., M. R., S. D. S., C. M., K. N. O., M. A. Z., M. R. K., M. W. L., A. J. S. report financial support was provided by National Institutes of Health. S. D. Davis, T. W. F., M. W. L., A. J. S. report a relationship with The PCD Foundation that includes: board membership. A. J. S. reports a relationship with The PCD Foundation that includes: employment. S. D. Davis receives grant support from ReCode Therapeutics. A. J. S. receives grant support from The Chest Foundation. T. W. F. served as a consultant for Translate Bio and Arrowhead Pharmaceuticals. T. W. F. and A. J. S. are advisory board members for Parion Sciences and ReCode Therapeutics. None declared (K. R. K., A. T. B., W. W., F.-C. L., L. L., E. R.).
(Copyright © 2023 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.)

المؤلفون: Rooney M, Jnah AJ

المصدر: Neonatal network : NN [Neonatal Netw] 2024 May 01; Vol. 43 (3), pp. 148-155.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Springer Publishing Company Country of Publication: United States NLM ID: 8503921 Publication Model: Print Cited Medium: Internet ISSN: 1539-2880 (Electronic) Linking ISSN: 07300832 NLM ISO Abbreviation: Neonatal Netw Subsets: MEDLINE

مواضيع طبية MeSH: Situs Inversus*/diagnosis , Kartagener Syndrome*/diagnosis , Kartagener Syndrome*/therapy , Kartagener Syndrome*/physiopathology , Kartagener Syndrome*/complications, Humans ; Infant, Newborn ; Male ; Female ; Respiratory Distress Syndrome, Newborn/diagnosis ; Respiratory Distress Syndrome, Newborn/etiology ; Respiratory Distress Syndrome, Newborn/therapy

مستخلص: Respiratory distress in the newborn is associated with numerous etiologies, some common and some rare. When respiratory distress is accompanied by laterality defects, namely, situs inversus (SI), the index of suspicion for comorbid primary ciliary dyskinesia (PCD) should be raised. Primary ciliary dyskinesia is characterized by ciliary dysmotility and the accumulation of thick secretions in the airways that obstruct air and gas exchange. Neonatal clinicians should know that while PCD is definitively diagnosed in infancy or early childhood, findings suspicious for PCD should be communicated to primary care providers at discharge from the hospital to facilitate timely subspecialty involvement, diagnosis, and treatment. This article will present a case report of a term newborn with SI totalis who was later diagnosed with PCD. We will discuss epidemiology, pathophysiology, clinical manifestations, and diagnostics, followed by management strategies. Additionally, we discuss the outpatient needs and lifespan implications.
(© Copyright 2024 Springer Publishing Company, LLC.)

المؤلفون: Shahani R; Northwell Health, New Hyde Park, New York.; Northwell Health, Staten Island University Hospital Heart Institute, Staten Island, New York.; Department of Cardiothoracic Surgery, Staten Island University Hospital Heart Institute, Staten Island, New York., Ahmed A; Northwell Health, New Hyde Park, New York.; City University of New York School of Medicine, New York, New York., Rosell FM; Northwell Health, New Hyde Park, New York.; Northwell Health, Staten Island University Hospital Heart Institute, Staten Island, New York.; Department of Cardiothoracic Surgery, Staten Island University Hospital Heart Institute, Staten Island, New York., Iribarne A; Northwell Health, New Hyde Park, New York.; Northwell Health, Staten Island University Hospital Heart Institute, Staten Island, New York.; Department of Cardiothoracic Surgery, Staten Island University Hospital Heart Institute, Staten Island, New York.

المصدر: Texas Heart Institute journal [Tex Heart Inst J] 2024 Apr 16; Vol. 51 (1).

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: published in the Cardiovascular Surgical Research Laboratories, Texas Heart Institute Country of Publication: United States NLM ID: 8214622 Publication Model: Print Cited Medium: Internet ISSN: 1526-6702 (Electronic) Linking ISSN: 07302347 NLM ISO Abbreviation: Tex Heart Inst J Subsets: MEDLINE

مواضيع طبية MeSH: Coronary Artery Disease*/complications , Coronary Artery Disease*/diagnosis , Coronary Artery Disease*/surgery , Situs Inversus*/complications , Situs Inversus*/diagnosis , Situs Inversus*/surgery , Dextrocardia*/complications , Dextrocardia*/surgery, Male ; Humans ; Middle Aged ; Coronary Artery Bypass ; Rare Diseases

مستخلص: Dextrocardia with situs inversus totalis is a rare hereditary condition characterized by reversed orientation of the major thoracic and abdominal organs. Though dextrocardia itself is not believed to increase the risk of coronary artery disease, the workup and surgical management of patients with this condition may be technically challenging to heart team clinicians. This report describes the case management of a high-risk 56-year-old man with dextrocardia who presented with multivessel coronary artery disease.
(© 2024 The Authors. Published by The Texas Heart Institute®.)

المؤلفون: Placidi G; UOC Oculistica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Largo Gemelli 8, 00168, Rome, Italy., D'Agostino E; UOC Oculistica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Largo Gemelli 8, 00168, Rome, Italy., Maltese PE; MAGI'S LAB, 38068, Rovereto, Italy. paolo.maltese@assomagi.org.; MAGI EUREGIO, 39100, Bolzano, Italy. paolo.maltese@assomagi.org., Savastano MC; UOC Oculistica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Largo Gemelli 8, 00168, Rome, Italy.; Istituto di Oftalmologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy., Gambini G; UOC Oculistica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Largo Gemelli 8, 00168, Rome, Italy.; Istituto di Oftalmologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy., Rizzo S; UOC Oculistica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Largo Gemelli 8, 00168, Rome, Italy.; Istituto di Oftalmologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy.; Istituto di Neuroscienze, Consiglio Nazionale Delle Ricerche, Pisa, Italy., Bonetti G; MAGI'S LAB, 38068, Rovereto, Italy.; MAGI EUREGIO, 39100, Bolzano, Italy., Bertelli M; MAGI'S LAB, 38068, Rovereto, Italy.; MAGI EUREGIO, 39100, Bolzano, Italy.; MAGISNAT, Atlanta Tech Park, 107 Technology Parkway, 30092, Peachtree Corners, GA, USA., Chiurazzi P; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy.; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Largo Gemelli 8, 00168, Rome, Italy., Falsini B; UOC Oculistica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Largo Gemelli 8, 00168, Rome, Italy.; Istituto di Oftalmologia, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy.

المصدر: BMC medical genomics [BMC Med Genomics] 2024 Apr 22; Vol. 17 (1), pp. 100. Date of Electronic Publication: 2024 Apr 22.

نوع المنشور: Journal Article; Case Reports; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Homozygote* , Kidney*/abnormalities , Kidney*/diagnostic imaging , Kidney Diseases*/genetics , Kidney Diseases*/congenital , Situs Inversus*/genetics , Situs Inversus*/complications, Humans ; Male ; Cone-Rod Dystrophies/genetics ; Congenital Abnormalities/genetics ; RNA Splice Sites/genetics ; Syndrome ; Middle Aged

مستخلص: Background: This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management.
Case Presentation: The male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation.
Discussion and Conclusions: Our findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases.
(© 2024. The Author(s).)

SCR Disease Name: Hereditary renal agenesis

المؤلفون: Ludvigsson JF; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Solna, Sweden.; Department of Pediatrics, Örebro University Hospital, Örebro, Sweden., Håberg SE; Centre for Fertility and Health, Norwegian Institute of Health, Oslo, Norway.; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway., Juliusson PB; Department of Health Registry Research and Development, Norwegian Institute of Health, Bergen, Norway.; Department of Clinical Science, University of Bergen, Bergen, Norway., Andersen AN; Department of Public Health, University of Copenhagen, Copenhagen, Denmark., Urhoj SK; Department of Public Health, University of Copenhagen, Copenhagen, Denmark., Stephansson O; Department of Medicine, Karolinska Institutet, Solna, Sweden.; Department of Women's Health and Division of Obstetrics, Karolinska University Hospital, Stockholm, Sweden.

المصدر: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2024 Apr; Vol. 113 (4), pp. 751-752. Date of Electronic Publication: 2024 Feb 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1651-2227 (Electronic) Linking ISSN: 08035253 NLM ISO Abbreviation: Acta Paediatr Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19*/epidemiology , Situs Inversus*/diagnostic imaging , Situs Inversus*/epidemiology, Pregnancy ; Female ; Humans ; Pandemics ; Fetus ; Prenatal Care