Pituitary hyperplasia with Sertoli cell-only and 47,XYY syndromes: an uncommon triad.

We report the case history of a 32-year-old man with no phenotypical abnormalities who presented with infertility. Semen analysis revealed azoospermia and testicular biopsy confirmed Sertoli cell-only (SCO) syndrome. Karyotyping revealed 47,XYY and pituitary hyperplasia was found on MRI pituitary.

Carcinosarcoma of urinary bladder mimicking vesical calculus: a case report.

We report a 50 year old male who presented with a short history of gross hematuria. An ultrasonogram detected a mass arising from the right lateral wall of the urinary bladder. Computed tomography of the abdomen revealed that the mass was a calcified lesion mimicking a bladder stone.

The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians.

Objectives: To assess the clinical significance of the interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians.

Methods: The clinical phenotypes associated with compound heterozygosity for the CAP+1 (A-->C) mutation with other beta-thalassemia mutations, together with the potential effect of the genetic modifiers alpha-thalassemia and the Xmn-1(G)gamma C-->T polymorphism were studied in 30 patients. The frequency of the CAP+1 (A-->C) polymorphism was determined and an analysis of the red cell indices, HbA(2) levels, iron status, and alpha-globin genes was carried out in 35 heterozygotes.

Fine needle aspiration cytology of low grade endometrial stromal sarcoma: a case report.

Background: Endometrial stromal sarcoma (ESS) is a rare neoplasm and is composed of E cells closely resembling normal proliferative endometrial stromal cells. Because of its rarity, the preoperative diagnosis is difficult for clinicians. These tumors are rarely subjected to fine needle aspiration (FNA), and the cytologic diagnosis is also difficult, as the differential diagnosis is leiomyosarcoma/cellular leiomyoma.

Delayed presentation of amniotic fluid embolism: lessons from a case diagnosed at autopsy.

Amniotic fluid embolism (AFE) syndrome, a catastrophic cause of respiratory failure typically occurs during labour, or soon after delivery. Systemic hypotension is the most prominent haemodynamic alteration documented in patients with AFE, a consequence principally of severe left-sided heart failure. A 22-year-old female was admitted to the respiratory intensive care unit with severe eclampsia and acute respiratory failure 4 h following delivery.

Haematological profile of childhood visceral leishmaniasis.

Visceral leishmaniasis is the most severe form of the disease affecting children. Definite diagnosis relies on the demonstration of the parasite in various tissues. Bone marrow examination is a well accepted method, but has sensitivity between 60-85%.

Histopatholgical spectrum of thymic neoplasms: twelve-year experience at a referral hospital in north India.

This study was undertaken to determine the histopathological spectrum and clinical profile of thymic neoplasms at a tertiary referral care centre. A total of 96 thymectomy specimens were received during the study period (1992-2004), which consisted of 54 neoplasms and 42 benign lesions. Among the neoplasms there were 48 thymic epithelial tumors, 3 thymolipomas and 3 thymic carcinoids.

An unusual cause of skin "tumours" in a renal transplant recipient.

Renal transplant recipients on immunosuppression are at increased risk of developing skin cancers as well as opportunistic infections though it is usually not difficult to clinically differentiate cutaneous fungal infections from skin tumours. We describe a case of tinea capitis in a renal transplant recipient presenting with such an exuberant inflammatory reaction and nodule formation that it was clinically mistaken to be an appendigeal tumor.

Hematological disorders in Down syndrome: ten-year experience at a Tertiary Care Centre in North India.

A total of 239 cases of Down syndrome (DS) were seen in the genetic clinic between 1992 and 2003, of which of 15 had hematological manifestations at presentation. These comprised 4 cases of transient myeloproliferative disorder (TMD), 3 cases of TMD/acute leukemia, 4 cases of acute leukemia (AL), 2 of dual deficiency anemia, and 1 case each of myelofibrosis and idiopathic thrombocytopenia. This study emphasizes the fact that an abnormal hemogram in a DS patient does not necessarily indicate AL/TMD, as a considerable number of the cases in this study had other hematological abnormalities.

Tuberculous dilated cardiomyopathy: an under-recognized entity?

Background: Tuberculosis (TB) is a common public health problem in many parts of the world. TB is generally believed to spare these four organs-heart, skeletal muscle, thyroid and pancreas. We describe a rare case of myocardial TB diagnosed on a post-mortem cardiac biopsy.

Coeliac disease as a cause of unusually severe anaemia in a young man with idiopathic pulmonary haemosiderosis.

Idiopathic pulmonary haemosiderosis (IPH) is characterized by a triad of recurrent episodes of alveolar haemorrhage, haemoptysis and iron deficiency anaemia. The combination of IPH and coeliac disease (CD) is extremely rare though both diseases may have a common pathogenetic link. As illustrated by our case CD should be specifically looked for in patients with IPH, especially those in whom the severity of anaemia is disproportionate to radiologic findings even in the absence of gastrointestinal symptoms since both diseases may benefit from a gluten-free diet.