Articles Related to hereditary

An internist with an eagle’s eye can diagnose many hidden diseases through careful examination. One such hereditary metabolic disorder is Albright’s Hereditary Osteodystrophy (AHO). Characteristic presentations in an individual affected by AHO were short stature, obesity, mild mental retardation and brachydactyly especially of 4th and 5th digits, which are the phenotypic features of genetic mutation. Pseudohypoparathyroidism (PHP) is characterized by inability of the body to respond appropriately to parathormone, mainly characterized by hypocalcaemia, increased serum parathormone concentration, insensitivity to the biological activity of parathormone and hyperphosphatemia. AHO when seen in association with resistance to parathormone (PTH), it is called PHP. Here is a case report of 22-year-old female patient with AHO with distinctive physical characteristics who presented to us with recurrent hypocalcaemic tetan

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SCAD with an estimated prevalence of 1.7% to 4% is an important cause of Myocardial infarction especially in middleaged women with no or minimal cardiovascular risk factors. Diagnosis requires a high degree of suspicion and better coronary imaging. The hereditary/ genetic component has been postulated to play a role, but there is insufficient data on familial SCAD. We present a case of SCAD with probable genetic and autoimmune association.

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A 22 year-old male with an unspecified family history of hematologic diseases was admitted complaining of chest pain.

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Congenital dyserythropoietic anemia type III (CDA III) can be caused by mutation in KIF23. CDA III differs from CDA I and II in the sense that secondary hemochromatosis has not been reported. However, we have observed elevated serum ferritin in a CDA III family.

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Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration of the skin and soft tissues of half of the face. The syndrome presents with characteristic skeletal, dental, and soft tissue changes in the affected half of the face, with or without neurological signs and symptoms.

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A fifty three year old white female smoker with Lynch Syndrome was receiving adjuvant chemotherapy for node positive caecal adenocarcinoma. Interval investigations demonstrated a second primary gastric cancer with bilateral pulmonary nodules of indeterminate significance. Lung biopsy revealed Langerhans cell histiocytosis (LCH).

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Ovarian cancer constitutes the second most common gynecological cancer with a five-year survival rate of 40%. Among the various histotypes associated with hereditary ovarian cancer, high-grade serous epithelial ovarian carcinoma (HGSEOC) is the most predominant and women with inherited mutations in BRCA1 have a lifetime risk of 40-60%. HGSEOC is a challenge for clinical oncologists, due to late presentation of patient, diagnosis and high rate of relapse. Ovarian tumors have a wide range of clinical presentations including development of ascites as a result of deregulated endothelial function thereby causing increased vascular permeability of peritoneal vessels.

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The DNA mismatch repair (MMR) system is necessary for the maintenance of genomic stability. The MMR system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops (IDLs) and heterologies generated during DNA replication and recombination.

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