A prenatally diagnosed case of Meckel –Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

ConclusionsMeckel –Gruber syndrome is a very heterogeneous syndrome in terms of the associated causal genes. In the first‐line diagnosis, we used an next‐generation sequencing (NGS)‐based large gene panel, but only 10 MKS genes were available on the platform used. In the case of prenatal ultrasound findings t hat are highly suggestive of MKS and a negative NGS MKS gene panel, WES should also be performed to not miss rare gene associations.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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This article reports a case of PPL by retrospective analysis of the clinical data and review of the literature, in an attempt to explore the diagnosis, treatment, and prognosis of this rare disease. The present case involves a male patient who came to our hospital for medical consultation of dysuria. Serum prostate-specific antigen (PSA) was not remarkable. Pelvic computed tomography (CT) scan suggested obvious enlargement of the prostate and a tumor in the prostate, but the tumor was not significantly enhanced on contrast-enhanced CT scan. Ultrasound suggested obvious enlargement of the prostate with multiple local low-de...
Source: International Journal of Immunopathology and Pharmacology - Category: Allergy & Immunology Tags: Int J Immunopathol Pharmacol Source Type: research
ConclusionAlthough rare, tricuspid endocarditis is not exceptional and occurs in a context that favors. The operative indication is rarely hemodynamic, but rather infectious to eradicate an antibiotic resistant focus. Overall prognosis of remains better than the left side.
Source: Archives of Cardiovascular Diseases Supplements - Category: Cardiology Source Type: research
ConclusionSMA syndrome is a rare disease that can go unrecognized and undiagnosed, exacerbating weight loss in an already significantly malnourished patient population. The diagnosis of SMA syndrome must be based on clinical symptomatology correlated with radiographic information. Once diagnosed, SMA syndrome can be safely treated by conservative measures although occasionally requires invasive intervention in the form of enteral tube placement, percutaneous jejunostomy tube placement, total parenteral nutrition, ligament of Treitz lysis, or duodenojejunostomy.
Source: Abdominal Imaging - Category: Radiology Source Type: research
Conclusions: The diagnosis of adrenocortical oncocytoma mainly depends on the pathological examination. Surgical resection is the main treatment method. Introduction The oncocytic adrenocortical neoplasm is a rare tumor of the adrenal gland. Since it was first reported in 1986 (1), there has been serial case reports to try to illuminate this rare tumor. However, there is still rather little information available, especially the pathological and follow-up data, to illustrate the biological behavior of this particular tumor. The origin, biological behavior, diagnostic criteria, and prognosis of oncocytic adrenocortic...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
In conclusion, we reported a CIAD case with two novel mutations that presented with recurrent seizures and hypoglycemia. When an infant shows recurrent hypoglycemia, with seizures and low plasma levels of ACTH and cortisol, CIAD should be take into consideration, even if the patient has other hormonal abnormalities. Genetic analysis is a powerful tool to confirm the diagnosis, which helped us to identify two novel mutations in our patient. In addition, the lack of an obvious circadian rhythm of ACTH and cortisol before treatment may be a specific characteristic of this disease. Ethics Statement This study was carried out...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
We present here ultrasound features of two cases of different uterine sarcoma subtypes.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Movies Case Reports 6 – Oncology Source Type: research
Myotonic dystrophy (DM1), a neuromuscular disease related to DMPK gene mutations, is associated to endocrine disorders and cancer. A routine endocrine work-up, including thyroid ultrasound (US), was conducted in ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Rationale: Cancer recurrence and metastasis after liver transplantation (LT) is common in some hepatocellular carcinoma (HCC) patients. The most common sites of extrahepatic metastases are lung, regional lymph node, adrenal gland, and bone. To our knowledge, HCC metastasis to the seminal vesicle after LT has not been reported in the literature. Patient concerns: A 56-year-old Asian man presented at hospital with a 9-year history of orthotopic LT because of HCC. The patient underwent surgery and radiotherapy for HCC metastasis to adrenal gland and 1 year later, chemotherapy for peritoneal metastasis. A few months later...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
We report a case of prostatic urethral cancer confirmed by transrectal ultrasound-guided prostate biopsy because of an abnormal digital rectal exam. Patient concerns: A 55-year-old man was referred to our hospital due to lower urinary tract symptoms that lasted for 5 years. Diagnoses and Interventions: On digital rectal examination, a hard and enlarged prostate was detected. Computed tomography, bone scintigraphy, and magnetic resonance imaging indicated benign prostatic hyperplasia. The patient underwent transrectal ultrasound-guided prostate biopsy. From the histopathological examination and immunohistochemical mar...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
CONCLUSION: The most common mode of presentation of retroperitoneal fibrosis remains lumbar pain with renal failure and a high sedimentation rate. Although abdominal ultrasound may contribute to the general evaluation of patients with retroperitoneal fibrosis, CT-scanner is the preferred imaging method. The imaging capability of magnetic resonance and the TEP-scan may facilitate assessment of disease extent. LEVEL OF EVIDENCE: 4. PMID: 30579757 [PubMed - as supplied by publisher]
Source: Progres en Urologie - Category: Urology & Nephrology Tags: Prog Urol Source Type: research
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