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1.
Intern Med ; 2024 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-38960695

RESUMEN

We herein report a 47-year-old man who presented with progressive paraparesis. Imaging revealed a right upper pulmonary nodule, massive bilateral adrenal metastases, thoracolumbar vertebral osteolysis, and subcutaneous nodules. A biopsy of the right buttock nodule revealed a poorly differentiated metastatic carcinoma with high programmed cell death-ligand 1 expression and extensive chromosomal rearrangements. The patient died 10 days after the initiation of pembrolizumab treatment. Autopsy findings confirmed pulmonary pleomorphic carcinoma with extensive metastases. Quantification of chromosomal rearrangements revealed a jump-up mutation from the normal karyotype, followed by a further incremental increase in the degree of deviation.

2.
Artículo en Inglés | MEDLINE | ID: mdl-38961827

RESUMEN

OBJECTIVE: To compare symptomatology in patients with unilateral versus bilateral superior semicircular canal dehiscence who underwent unilateral surgical repair. STUDY DESIGN: Retrospective cohort study. SETTING: Single surgeon series at tertiary academic medical center from 2002 to 2021. METHODS: Patients were administered a standardized questionnaire regarding the presence or absence of 16 symptoms (11 auditory and 8 vestibular) pre- and postoperatively. Symptom rates were compared between patients with unilateral and bilateral dehiscence, and paired statistical testing was used to analyze symptom improvement with surgery. RESULTS: Our final cohort included 125 patients, 93 (74%) with unilateral superior canal dehiscence syndrome (SCDS) and 32 (26%) with bilateral SCDS. Bilateral patients had an increased burden of auditory and vestibular symptoms compared to unilateral patients before surgery (7.6 vs 6.2, P = .03) and after surgery (3.1 vs 1.9, P = .02). Both groups experienced a significant reduction of symptoms following repair (P < .01 for both). CONCLUSION: Our study has 2 key findings: First, patients with bilateral dehiscence seem to be more symptomatic, reporting more auditory and vestibular symptoms both before and after surgery. Second, bilateral patients still seem to benefit from unilateral repair, demonstrating a significant reduction in the number of symptoms with surgery. Our findings may help inform the management of the sizable proportion of SCDS patients with bilateral defects.

3.
Cureus ; 16(6): e63505, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38952580

RESUMEN

Bronchopulmonary fistula (BPF) is an abnormal connection between the pleural space and bronchial tree, potentially leading to fatal outcomes if untreated. While BPF commonly arises following lung surgery, it can also be linked to infections. This report details the case of a 47-year-old male with recent untreated bacterial pneumonia, who developed bilateral pneumothoraces with persistent air leaks, Pseudomonas and Aspergillus empyema, culminating in a right-sided BPF necessitating video-assisted thoracic surgery (VATS) decortication. The agenda of this presentation is to enhance early recognition of BPF, which can be presented subtly, to avert severe complications.

4.
Int J Surg Case Rep ; 121: 109954, 2024 Jun 27.
Artículo en Inglés | MEDLINE | ID: mdl-38959615

RESUMEN

INTRODUCTION: Giant juvenile fibroadenomas occurring at a mean age of 13 may be multiple and bilateral, accounting for approximately 0.5 % of all fibroadenomas. The pathogenesis of these tumors is closely linked to hormonal changes during puberty, characterized by increased estrogen stimulation, heightened estrogen receptor sensitivity, and reduced estrogen antagonists. These hormonal factors are pivotal in the rapid growth and substantial size observed in giant juvenile fibroadenomas. CASE PRESENTATION: An adolescent girl presented at the outpatient clinic with significant bilateral breast enlargement, causing redness and discomfort when sitting, leading to difficulty wearing age-appropriate clothing and chest wall pressure. Despite previous consultations attributing the condition to genetic causes, further investigation via radiological ultrasound indicated a probable diagnosis of bilateral breast mass fibroadenoma, occupying a substantial portion of the breast tissue. Consequently, the decision was made to perform bilateral breast surgery to remove the giant masses for histopathological analysis. DISCUSSION: The delayed diagnosis accentuated the case's complexity, highlighting the challenges in effectively identifying and managing giant fibroadenomas in adolescents. Despite the initial absence of alarming symptoms, these fibroadenomas' sheer size and impact underscored the importance of early detection and comprehensive evaluation in similar clinical presentations. CONCLUSION: The surgeon must emphasize meticulous planning when deciding on the surgical approach for removing a giant juvenile fibroadenoma. This planning is crucial for preserving breast functionality, achieving a satisfactory cosmetic outcome, and addressing the psychological distress of young patients. Early detection and excision are imperative to safeguard breast tissue.

5.
Arthroplast Today ; 27: 101406, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38946921

RESUMEN

A 78-year-old Thai male presented with chronic bilateral knee pain and swelling. X-ray imaging revealed osteoarthritis in both knees, with a suspicious soft tissue shadow. Magnetic resonance imaging suggested lipoma arborescens (LA). The patient underwent LA excision with a complete synovectomy, followed by simultaneous bilateral total knee arthroplasty (SBTKA). Pathological examination confirmed LA. At the 2-year follow-up, the patient reported no complications, adverse outcomes, or recurrence. The intervention improved joint function and pain relief, allowing for early ambulation and full weight-bearing post-surgery. This case highlights the success of complete synovectomy with SBTKA, addressing bilateral knee pathology concurrently. The combined approach reduced operative time and significantly improved joint function and pain relief, emphasizing the benefits of timely surgical intervention and suggest potential advantages of SBTKA for optimal patient outcomes.

6.
Cureus ; 16(5): e61341, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38947717

RESUMEN

Bilateral single-system ectopic ureters (BSSEUs) are among the rarest entities encountered in pediatric urology. A BSSEU occurs when the ureteric buds originate cranially from the mesonephric ducts, causing a delay in their integration into the urogenital sinus. It presents as continuous incontinence in females, whereas symptoms like infection and discomfort are present in males. We describe a case involving a BSSEU opening into the vagina and urethra, with the patient experiencing continuous urinary incontinence, and its diagnosis and management. Here, We discuss a rare case of a four-year-old girl exhibiting continuous urinary incontinence or dribbling associated with recurrent urinary tract infections (UTIs) attributed to bilateral ectopic ureters. Imaging modalities, including contrast-enhanced computed tomography(CECT) and MRI, revealed the presence of BSSEUs accompanied by hydroureteronephrosis. The condition was managed with prompt surgical intervention involving bilateral ureteric reimplantation. Subsequent to the procedure, the patient experienced a significant improvement in continence mechanism and bladder capacity, obviating the requirement of urinary diversion procedure appendicovesicostomy or bladder neck reconstruction. Notably, while BSSEUs are an uncommon presentation, their timely and appropriate management is paramount in preventing potential renal damage. This case underscores the significance of vigilant monitoring and proactive intervention in addressing such complex urological anomalies in pediatric patients.

7.
Int Cancer Conf J ; 13(3): 193-198, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38962040

RESUMEN

A 61-year-old woman with BRCA2 pathogenic variant had been treated for 20 years and showed dynamic changes in the genomic profile of her metachronous bilateral breast cancer and metastases. She underwent right breast conservation surgery at age 42-Genome 1, lung metastasis and left axillary lymph node metastasis at age 51, partial excision under local anesthesia for left breast cancer at age 53-Genome 2, left axillary lymph node dissection was added 6 month later-Genome 3. Then, olaparib was administered, and subsequently, left mastectomy was performed for the recurrence of left breast cancer at age 59-Genome 4. Genomic profile of the tumor was analyzed at four points (Genome 1-3 were analyzed by in house breast cancer panel, and Genome 4 was analyzed by Foundation One CDx). Two interesting findings emerged from these analyses. First, the genomic profile revealed that the left axillary lymph node metastasis, considered histologically from right breast cancer, was a metastasis from the left breast cancer. The second finding is that as the disease progressed, mutation profile became more diverse. The profile of the left breast cancer removed after olaparib and other treatments showed reversion mutation of BRCA2 and was diagnosed as tumor mutation burden high. Subsequent response to pembrolizumab was favorable.

8.
Eur Spine J ; 2024 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-38965088

RESUMEN

OBJECTIVE: To compare the efficacy and safety of vertebroplasty through different pedicle approaches in the treatment of osteoporotic vertebral compression fracture osteoporotic vertebral compression fractures (OVCF) by network meta-analysis. METHODS: Pubmed, Embase, Cochrane Library, Web of Science. Database for literature retrieval, retrieval time from the establishment of the database to April 2023, the randomized controlled trials of unilateral vertebroplasty (UVP), bilateral vertebroplasty (BVP), unilateral kyphoplasty (UKP), bilateral kyphoplasty (BKP), curved vertebroplasty (CVP) and curved kyphoplasty (CKP) were screened, evaluated and the data were extracted and included in the analysis. STATA 15.0 and ReMan 5.3 were used for data analysis. This study was registered in the National Institute for Health Research (NIHR) with the registration number CRD42023405181. RESULTS: This study included 16 articles with a total of 1712 patients. The order of visual analogue scale (VAS) improvement from good to bad is CVP > BVP > UVP > CKP > BKP > UKP. The order of kyphotic angles improvement from good to bad is CKP > UKP > UKP > UVP > BVP > CVP. The order of bone cement injection from less to more is UVP > CVP > UKP > CKP > BVP > BKP. The order of bone cement leakage rate from less to more is CKP > CVP > UKP > BKP > UVP > BVP. The order of X-ray exposure time from less to more is CKP > CVP > UVP > BVP > UKP > BKP. The order of operation time from less to more is CVP > UVP > UKP > CKP > BVP > BKP. CONCLUSION: For patients with kyphotic angles, kyphoplasty has unique advantages in improving kyphotic angles. But generally speaking, curved approach can optimize the distribution of bone cement through unilateral approach to achieve the orthopedic effect of bilateral approach, which is a minimally invasive technique with better curative effect and higher safety in the treatment of OVCF.

9.
Egypt Heart J ; 76(1): 84, 2024 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-38965125

RESUMEN

BACKGROUND: Aortic atresia with ventricular septal defect is a very rare congenital cardiac anomaly, especially in combination with aortic arch interruption. It is always challenging to choose the optimal treatment tactics for such patients. One of the possible types of intervention is the Yasui procedure. There are only 19 reported cases in the literature of aortic atresia with interruption of the aortic arch type B or C, and not a single clinical case of type A. CASE PRESENTATION: The proband was a 2-day-old boy with diagnosis: aortic atresia with a ventricular septal defect and interruption of the aortic arch type B. The child underwent a Yasui procedure without serious postoperative complications and with good long-term result. CONCLUSIONS: The Yasui procedure in patients with aortic atresia and interrupted aortic arch can be performed with minimal complications, even in low-weight patients.

10.
Front Neurol ; 15: 1393648, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38966088

RESUMEN

Several surgical techniques have been documented for approaching and repairing superior semicircular canal dehiscence syndrome (SCDS). These techniques encompass the trans-middle cranial fossa, transmastoid, endoscopic approaches, and round window reinforcement (RWR). RWR entails the placement of connective tissue with or without cartilage and around the round window niche, restricting the round window's movement to minimize the 3rd window effect and restore the bony labyrinth closer to its normal state. We employed the multilayer RWR technique, resulting in significant postoperative improvement and long-lasting effects for 3.7 years in 2 cases. Here, we present the clinical findings, surgical procedures, and the effectiveness of multilayer RWR. This technique can be the initial choice for surgical treatments of SCDS due to its high effectiveness, longer-lasting effect, and minimal risk of surgical complications.

11.
Oncol Lett ; 28(2): 390, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38966583

RESUMEN

Continued advances in the diagnosis and treatment of breast cancer (BC) have led to an increase in the number of long-term BC survivors and an increase in the incidence of metachronous BC in the contralateral breast. Therefore, it is important to understand the factors that influence the development of metachronous BC; however, the impact of the laterality of the initial ipsilateral (I)BC as a risk factor for the development of metachronous contralateral (MC)BC has not been extensively investigated. The present study included 17,082 female patients with stage 0-3 IBC from the prospectively maintained Korean Breast Cancer Registry from 1989-2013 and divided them into two groups: Patients with MCBC (n=88) and those without MCBC (n=16,994). Risk factors that present at the initial BC diagnosis that could significantly influence the development of MCBC were screened for and risks were evaluated using the Fine-Gray subdistribution hazard model. Significant differences in baseline characteristics between MCBC and non-MCBC groups were demonstrated. Patients aged <40 years, those with histological and nuclear grade 3 tumors, and those with the triple-negative BC subtype were significantly more prevalent in the MCBC group than in the non-MCBC group. Additionally, the cumulative incidence of MCBC increased over time, with a notable increase from 0.1% in year 1 to 1.6% in year 10. Survival analysis revealed no significant differences in overall or BC-specific survival between the two groups. Key predictive factors identified for MCBC included an age of <40 years at initial diagnosis, a negative progesterone receptor status, and a Ki-67 score of >14%. Overall, the present study revealed several factors associated with MCBC and emphasized the need for long-term monitoring of BC survivors, considering these newly identified risk factors.

12.
J Vasc Surg Cases Innov Tech ; 10(4): 101536, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38966819

RESUMEN

We present a rare anatomical configuration of a 19-year-old woman, characterized by descending thoracic aortic aneurysm with right aberrant subclavian arteries with a Kommerell's diverticulum in a left aortic arch. The complexity of this vascular anomaly was accompanied by an anomalous origin of left subclavian artery. The patient underwent a single-stage open surgical repair via left thoracotomy under deep hypothermic circulatory arrest. The bilateral aberrant subclavian arteries were separately reconstructed in situ using hand-sewn branched grafts.

13.
Cureus ; 16(5): e61079, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38919237

RESUMEN

Herpetic epithelial keratitis is a viral infection of the cornea caused by the herpes simplex virus (HSV). It typically presents as a unilateral disease. Bilateral involvement is a rare manifestation of herpetic epithelial keratitis, accounting for only a small percentage of cases. By sharing this case, we aim to contribute to the understanding of bilateral herpetic epithelial keratitis and stimulate further research in this area to optimize patient care and outcomes A 13-year-old child, a known case of atopy, presented to the ophthalmology clinic with a complaint of pain, photophobia, and redness in the right eye (OD) for three days. The patient was diagnosed as a case of bilateral herpetic epithelial keratitis; he was started on moxifloxacin eye drops four times a day, Artelac (sodium hyaluronate) every two hours, carbomer HS, ganciclovir ointment five times per day. Bilateral herpetic epithelial keratitis is a rare manifestation of HSV infection, and its management poses unique challenges compared to unilateral disease. The diagnosis of bilateral herpetic epithelial keratitis is primarily based on clinical findings, including bilateral dendritic or geographic ulcers on the cornea. Fluorescein staining is a valuable tool for visualizing corneal ulcers. In our case, the presence of bilateral dendritic ulcers in the absence of significant anterior chamber inflammation supported the diagnosis of bilateral herpetic epithelial keratitis Despite the limited literature on bilateral herpetic epithelial keratitis, the principles of management remain consistent with those of unilateral disease. Early recognition, prompt initiation of antiviral therapy, and close follow-up are crucial for successful outcomes.

14.
Cell Rep ; 43(7): 114383, 2024 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-38923461

RESUMEN

Alcohol is the most widely used addictive substance, potentially leading to brain damage and genetic abnormalities. Despite its prevalence and associated risks, current treatments have yet to identify effective methods for reducing cravings and preventing relapse. In this study, we find that 4-Hz alternating bilateral sensory stimulation (ABS) effectively reduces ethanol-induced conditioned place preference (CPP) in male mice, while 4-Hz flash light does not exhibit therapeutic effects. Whole-brain c-Fos mapping demonstrates that 4-Hz ABS triggers notable activation in superior colliculus GABAergic neurons (SCGABA). SCGABA forms monosynaptic connections with ventral tegmental area dopaminergic neurons (VTADA), which is implicated in ethanol-induced CPP. Bidirectional chemogenetic manipulation of SC-VTA circuit either replicates or blocks the therapeutic effects of 4-Hz ABS on ethanol-induced CPP. These findings elucidate the role of SC-VTA circuit for alleviating ethanol-related CPP by 4-Hz ABS and point to a non-drug and non-invasive approach that might have potential for treating alcohol use disorder.

15.
Andrology ; 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38924635

RESUMEN

BACKGROUND: Pediatric inguinal hernia repair (IHR) is a common cause of obstructive azoospermia (OA). Yet, the surgical treatment for this kind of OA remains difficult with poor fertility outcome. OBJECTIVES: To evaluate the safety and effectiveness of totally extraperitoneal laparoscopy-assisted microsurgical vasovasostomy (VV) in the treatment of OA caused by pediatric bilateral IHR. MATERIALS AND METHODS: Totally, 37 patients with OA caused by pediatric bilateral IHR were enrolled in this study from March 2015 to December 2020 in Shanghai General Hospital. The clinical data and fertility outcomes were collected and analyzed. RESULTS: All patients enrolled had a history of bilateral IHR at the age of 1-10 years old. The mean age of patients was 27 ± 4.31 (range: 18-35) years. Totally extraperitoneal laparoscopy (TEP) was applied in 31 patients for the exploration and retrieval of pelvic vas deferens end, and 30 of them underwent microsurgical VV successfully. Among the six cases where TEP was not applied, five cases underwent microsurgical anastomosis. Intraoperative exploration revealed that the location of vas deferens injuries included scrotum (2.70%, 1/37), inguinal canal (5.41%, 2/37), pelvic cavity (78.37%, 29/37), and multiple sites (13.51%, 5/37). The mean operation time was 339 ± 96.73 min (range: 130-510 min). There were no surgical complications. Thirty-three cases were followed up for 5-48 months with four cases lost to follow-up. The overall patency rate, pregnancy rate, and natural pregnancy rate were 75.86% (22/29), 46.67% (14/30), and 36.84% (7/19, 3 patients without family planning), respectively. And seven couples conceived through the assisted reproductive technique, two of which using fresh sperm in the ejaculate. CONCLUSION: TEP laparoscopy-assisted microscopic VV is an effective treatment for patients with OA caused by pediatric bilateral IHR.

16.
Cureus ; 16(5): e61230, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38939287

RESUMEN

Membranous nephropathy (MN) is a significant cause of nephrotic syndrome in non-diabetic adults. It can be primary, attributed to autoantibodies targeting podocyte antigens, or secondary to various disorders. Although rare, nerve epidermal growth factor-like 1 (NELL-1)-associated MN presents diagnostic and management challenges. Thrombotic complications such as renal vein thrombosis (RVT) are recognized but less reported, especially in NELL-1-positive MN. We report a 43-year-old male with NELL-1-positive MN complicated by acute kidney injury (AKI) due to bilateral RVT, treated successfully with thrombolysis. Histopathological analysis confirmed MN with specific immunohistochemical staining for NELL-1. Treatment included immunosuppressive therapy and tailored anticoagulation. This case emphasizes recognizing thrombotic complications in MN, particularly in NELL-1-positive cases. Further research is needed to explore serum anti-NELL-1 antibodies as biomarkers and optimal anticoagulation strategies in MN patients at risk of thrombotic events to improve outcomes and guide personalized management.

17.
Front Psychol ; 15: 1406180, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38933577

RESUMEN

Objectives: Bilateral stimulation is a core element of Eye Movement Desensitization and Reprocessing Therapy, a psychotherapeutic intervention for the treatment of Posttraumatic Stress Disorder (PTSD). Promising previous findings showed measurable physiological effects of bilateral stimulation in healthy individuals, but studies that replicated these findings in PTSD patients are sparse. Methods: 23 patients with PTSD and 30 healthy controls were confronted with affective standard scripts (pleasant, neutral, unpleasant) while bilateral tactile stimulation was applied. Monolateral and no stimulation served as control conditions. Noise-induced startle reflex response (valence measure) and galvanic skin response (arousal measure) were used for physiological responses and the valence and arousal scale of the Self-Assessment-Manikin for subjective responses. Results: Both groups showed a subjective distress reduction for unpleasant scripts and a subjective attention increase for positive scripts under bilateral stimulation. In healthy individuals, this was also for physiological measures, and a general startle-reducing effect of bilateral stimulation in the absence of affective stimuli was found. In PTSD patients, however, the effects were restricted on the subjective level, and no concomitant physiological effects were observed. Conclusions and significance: The findings indicate, that generalizing the effects of BLS in healthy individuals to PTSD patients may be problematic. The herein-reported group differences can be explained by PTSD-specific peculiarities in emotion processing and cognitive processing style.

18.
Cureus ; 16(5): e61186, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38933623

RESUMEN

Total knee arthroplasty (TKA) aims to alleviate severe pain and functional impairment in advanced knee arthritis. However, extra-articular deformities must be addressed preoperatively to ensure optimal implant positioning and soft tissue balancing. We present a case of a 58-year-old man with a history of a right tibial malunion and left femoral shaft fracture, who developed progressive bilateral knee osteoarthritis. He underwent simultaneous bilateral TKA with a right tibial clamshell osteotomy to correct a 17° varus deformity and left femoral hardware removal to accommodate a long stem implant. At one year follow-up, the patient had satisfactory functional outcomes with restoration of mechanical alignment and bony union at the osteotomy site. This case demonstrates the utility of the clamshell osteotomy in correcting tibial malunion to facilitate TKA with long stems, reducing the degree of intra-articular correction required.

19.
Sci Rep ; 14(1): 14598, 2024 06 25.
Artículo en Inglés | MEDLINE | ID: mdl-38918560

RESUMEN

Although bilateral simultaneous total knee arthroplasty (BSTKA) is an effective treatment for bilateral knee osteoarthritis, safety concerns and lack of precise patient selection criteria persist. The purpose of this retrospective study was to determine the complication rate and the role of frailty in patient selection for BSTKA. We analyzed data from 434 patients who underwent BSTKA between February 2012 and January 2021, examining demographic factors and preoperative blood test results. Complications occurred in 77 patients (18%), with anemia requiring transfusion being the most common (26 patients, 5.9%). In the univariate analysis, age ≥ 75 years, age-adjusted Charlson Comorbidity Index ≥ 5, age-adjusted 5-factor modified Frailty Index (aamFI-5) ≥ 3, hemoglobin ≤ 11.0 g/dL, albumin ≤ 3.5 g/dL, estimated glomerular filtration rate < 45 ml/dl/1.73 m2, and D-dimer ≥ 2.0 µg/mL contributed to postoperative complications (p < 0.05). Multivariate analysis identified aamFI-5 ≥ 3 as an independent risk factor (p = 0.002). Our findings underscore the practical utility of aamFI-5 in predicting complications after BSTKA, providing valuable guidance to surgeons in the selection of BSTKA candidates and ultimately improving clinical outcomes.


Asunto(s)
Artroplastia de Reemplazo de Rodilla , Fragilidad , Osteoartritis de la Rodilla , Selección de Paciente , Complicaciones Posoperatorias , Humanos , Artroplastia de Reemplazo de Rodilla/efectos adversos , Artroplastia de Reemplazo de Rodilla/métodos , Masculino , Femenino , Anciano , Estudios Retrospectivos , Complicaciones Posoperatorias/etiología , Anciano de 80 o más Años , Osteoartritis de la Rodilla/cirugía , Persona de Mediana Edad , Factores de Riesgo , Factores de Edad
20.
Genes (Basel) ; 15(6)2024 May 25.
Artículo en Inglés | MEDLINE | ID: mdl-38927621

RESUMEN

The MAF gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts. We aim to review the MAF variants in the C-terminal DNA-binding domain associated with non-syndromic congenital cataracts and describe a patient with a novel, disease-causing de novo missense variant. Published reports of C-terminal MAF variants and their associated congenital cataracts and ophthalmic findings were reviewed. The patient we present and his biological parents had genetic testing via a targeted gene panel followed by trio-based whole exome sequencing. A 4-year-old patient with a history of bilateral nuclear and cortical cataracts was found to have a novel, likely pathogenic de novo variant in MAF, NM_005360.5:c.922A>G (p.Lys308Glu). No syndromic findings or anterior segment abnormalities were identified. We report the novel missense variant, c.922A>G (p.Lys308Glu), in the C-terminal DNA-binding domain of MAF classified as likely pathogenic and associated with non-syndromic bilateral congenital cataracts.


Asunto(s)
Catarata , Mutación Missense , Proteínas Proto-Oncogénicas c-maf , Humanos , Catarata/genética , Catarata/congénito , Catarata/patología , Proteínas Proto-Oncogénicas c-maf/genética , Masculino , Preescolar , Dominios Proteicos , Secuenciación del Exoma
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