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Biomedical subjects

F Raafat

Publications and source records attributed to F Raafat.

At least 91 records · Page 5Linked to original sources

Juvenile nephronophthisis with calcification of basal ganglia and pancreatic insufficiency.

Juvenile nephronophthisis is a major cause of progressive renal failure in children. Its manifestations are varied and protean. It is a multisystem syndrome, encompassing and overlapping related disorders. We treated a 4-year-old girl who presented with various manifestations of progressive renal failure characteristic of juvenile nephronophthisis, in addition to calcification of the basal ganglia and pancreatic lipomatosis, two associated conditions hitherto undescribed. It is hoped that further reports of other associated conditions may help to clarify further the nature of this complex syndrome.

Basal Ganglia Diseases↗

Nucleolar organizer regions in small cell tumours of childhood.

A silver colloid technique for nucleolar organizer regions (AgNORs) was applied to paraffin sections of 50 small cell tumours of childhood. These comprised 20 neuroblastomas, 10 Ewing's sarcoma, and 20 rhabdomyosarcomas, including spindle cell, myxoid, and round cell variants. On the basis of the number of AgNORs, one could differentiate between the three groups. The differences observed were statistically significant (P = 0.01-0.001). The subtypes of rhabdomyosarcoma could not be distinguished from one another on the basis of AgNOR counts. We suggest that this simple histochemical technique may be a useful adjunct to the range of special techniques now available to assist the pathologist in the diagnosis of small round cell tumours.

Adrenal Gland Neoplasms↗

Second malignancies in children treated for non-Hodgkin's lymphoma and T-cell leukaemia with the UKCCSG regimens.

Eight children treated between 1977 and 1983 with the UK Children's Cancer Study Group's non-Hodgkin lymphoma (NHL) and T-cell protocols have developed second malignancies within 7 years of commencing treatment. Five developed acute non-lymphoblastic leukaemia and a sixth died from infection while pancytopenic with a pre-leukaemic marrow. The other malignancies were cerebral astrocytoma and an undifferentiated low grade sarcoma. These eight children were included among 261 children studied in the first UKCCSG NHL and T-cell trials giving an actuarial incidence of 7.8% second malignancy at 7 years. Six had received adjuvant radiotherapy which may have contributed to the high incidence of second malignancy.

Adolescent↗

Gangliorhabdomyosarcoma: a histopathological and immunohistochemical study of three cases.

A histopathological and immunoperoxidase study on three cases of genitourinary gangliorhabdomyosarcoma using a spectrum of conventional staining methods and antibodies against myoglobin, neuron-specific enolase and S-100 protein is presented. The results of the study have shown that differentiated myoblasts, ganglion cells and Schwann cells reacted positively with the particular antisera, but the majority of undifferentiated cells were negative. From the immunopathology results it was not possible to determine whether the undifferentiated cells were precursors of neural cells or myoblasts; the histological appearance resembled that of mesenchymal cells commonly seen in rhabdomyosarcomas. Theories concerning the origin of these tumours from neural crest ectomesenchyme or from neural crest and somitic mesenchyme are considered. Further study is needed to establish their histogenesis.

Cell Nucleus↗

Carney's triad: gastric leiomyosarcoma, pulmonary chondroma and extra-adrenal paraganglioma in young females.

The case of a 13-year-old girl with a gastric leiomyosarcoma and a pulmonary osteochondroma is presented. The association of these two tumours and extra-adrenal paraganglioma has been described as a triad by Carney. The patient is free of recurrence of the gastric tumour with no evidence of paraganglioma 10 months after the operation. To our knowledge this is the first case of the triad reported in the UK.

Adolescent↗

Lymphoid polyps of the rectum.

In children lymphoid polyps of the rectum are uncommon benign lesions with a good prognosis following local treatment. We report a girl in whom a cluster of lymphoid polyps occurred 9 months following removal of a single lymphoid polyp. All of the polyps, including the original lesion, displayed a monoclonal nature on immunocytochemical examination.

Child↗

Chronic granulomatous disease mimicking Crohn's disease.

A 34-month-old boy with intermittent diarrhoea and abdominal distension from 2 months of age, a chronic microabscess of the cheek, gastric antral narrowing, and perianal abscesses containing granulomata was found at colonscopy to have extensive, noncaseating, submucosal ileal and colonic granulomata. He was initially thought to have Crohn's disease, but then developed a cervical abscess, and a diagnosis of chronic granulomatous disease was established. This is an important, although rare, differential diagnosis of chronic inflammatory bowel disease in childhood.

Abscess↗

Congenital microvillous atrophy: specific diagnostic features.

Proximal small intestinal and colonoscopic mucosal biopsies from two children with the intractable diarrhea of infancy syndrome were examined by electron microscopy. Microvillous involutions were found in the small and large bowel of both patients. We suggest that this is a specific diagnostic finding for congenital microvillous atrophy, a distinct disorder within the intractable diarrhoea syndrome which has an extremely poor prognosis.

Atrophy↗

Cryptosporidiosis in immunocompetent children.

Cryptosporidial oocysts were identified by modified Ziehl-Neelsen stain in the stools of seven (3.2%) of 213 children with acute or chronic diarrhoea and one (0.9%) of 112 controls. All children with cryptosporidia were immunocompetent. Four of the index cases had a short illness (3-14 days) with watery diarrhoea, vomiting (2), and abdominal pain (2). Two index cases had chronic diarrhoea for over four months and failure to thrive. Both had a small intestinal enteropathy; one had cryptosporidial oocysts in stool specimens two months apart and the other had cryptosporidial schizonts attached to the jejunal mucosa. One index case had a colitis of indeterminate cause. Four of the index cases had recently travelled abroad. There had been an outbreak of gastroenteritis in the family of one of the index cases, and three affected sisters and an asymptomatic brother had oocysts in their stools. Cryptosporidial infestation seems to be associated with acute gastroenteritis and sometimes with chronic diarrhoea and small bowel damage in immunocompetent children.

Animals↗

Small intestinal mucosal fat in childhood enteropathies.

A sequential series of 100 small bowel mucosal biopsies from children was studied to assess the frequency and pattern of mucosal fat staining, and to compare patterns of fat distribution with mucosal structure and clinical diagnosis. Deep mucosal fat was commonly associated with those clinical groups showing normal mucosal structure. While fine granular surface epithelial fat was common in normal and abnormal biopsies, the presence of large fat globules in the surface epithelium was almost entirely limited to biopsies showing villous shortening. Large fat globules in the surface epithelium in coeliac disease and cow's milk sensitive enteropathy were probably related to the more severe degrees of villous abnormality encountered in these clinical groups. However, large fat globules in surface epithelium were also found in a few cases of cow's milk sensitive enteropathy with normal or minimal villous blunting. Fat staining may be a useful additional histological marker to aid in the interpretation of small intestinal mucosal biopsies.

Adolescent↗

Secondary amyloidosis complicating rheumatoid arthritis; report of a case in an eight-year-old girl.

Secondary amyloidosis can complicate any long-standing suppurative infection, such as tuberculosis, osteomyelitis and disorders of connective tissue, i.e., the so-called "collagen diseases". Rheumatoid arthritis is known to be a notable precursor of amyloidosis. The fact that a long-standing process is often necessary to produce the changes in the ground substance, makes Juvenile Rheumatoid Arthritis (J R A) an interesting challenge to that hypothesis. The decreasing incidence of secondary amyloidosis, complicating rheumatoid arthritis, is attributed to better management of patients and the use of more effective anti-inflammatory therapy.

Amyloidosis↗

Pulmonary capillariasis in a child in Iran.

A 9-year-old boy in Teheran, Iran developed severe asthmatic symptoms, productive cough, and moderate eosinophilia. Lung biopsy demonstrated a helminth in a granulomatous lesion with foreign-body type cellular reaction leading to a tentative diagnosis of visceral larva migrans. Diethylcarbamazine, thiabendazole, and steroids were given, rapidly relieving the symptoms. In a subsequent review of the biopsy the helminth was identified as a Capillaria, probably Capillaria (Thominx) aerophila, a nematode parasite of dogs, cats, and other carnivores, apparently the ninth such infection to be reported in man.

Capillaria↗

Calcified left ventricular aneurysm and non-atherosclerotic myocardial infarction in a child.

A 14-year-old boy, admitted with intractable chest pain, was found to have an enlarged heart and calcification in the apical region, with electrocardiographic features of massive inferolateral myocardial infarction. Left ventricular angiography revealed a large left ventricular aneurysm. He died following resection of the aneurysm and post mortem examination showed changes of a non-specific chronic myocarditis. A vasculitis involving small coronary arterioles was also found in the vicinity of the aneurysm, and the possibility of a rheumatic vasculitis was suggested by a transient episode of an erythema marginatum-like eruption. It is concluded that the association of infarction pattern on the electrocardiogram together with calcification of the heart in children is highly suggestive of a ventricular aneurysm secondary to a myocarditis or a vasculitis involving small, intramyocardial branches of the coronary arteries.

Adolescent↗

Rheumatic valvulitis and constrictive pericarditis. Report of case.

A 13-year-old girl was admitted with congestive heart failure, edema, ascites, and jaundice. There was an apical pansystolic murmur of mitral insufficiency and marked cardiomegaly. Her venous pressure was elevated. Despite medical treatment her condition deteriorated, hepatic and renal failure as well as disseminated intravascular coagulation ensued, leading to her death. At post mortem she was found to have rheumatic mitral valvulitis and constrictive pericarditis. The pathologic picture of pericarditis was nonspecific, but in presence of a positive skin test for tuberculosis the latter is considered to be the most likely cause of the pericarditis, nevertheless, rheumatic etiology of pericarditis in this case cannot be excluded. The presence of rheumatic heart disease and cardiomegaly may have led to the exacerbation of symptoms and signs of constrictive pericarditis and severe right heart failure.

Adolescent↗