Biomedical subjects

B Talim

Publications and source records attributed to B Talim.

28 records · Page 2Linked to original sources

PubMed2000

Renal oncocytoma: diagnostic and therapeutic aspects.

Renal oncocytoma is one of the most unusual benign lesions, which presents as a complicated mass resulting in a diagnostic and therapeutic dilemma. A new case of renal oncocytoma in a 13-year-old boy is presented. The clinocopathologic features of this rare entity are discussed, with special emphasis on diagnosis and treatment. There are no specific presumptive clinical and laboratory findings, including tumor markers, ploidy analysis, and imaging techniques that distinguish oncocytoma from other renal masses. The most important diagnostic aid is to bear this entity in mind when a child presents with an unexplained renal mass. Frozen section biopsies followed by partial nephrectomy are mandatory for the appropriate treatment after excluding bilateral or multifocal occurrence.

Adenoma, Oxyphilic↗

PubMed1999

Pulmonary lymphomatoid granulomatosis in a 4 year old.

The authors report a pulmonary lymphomatoid granulomatosis (LG) in a 4-year-old girl. The clinicopathologic and radiological features of this rare entity are discussed with special emphasis on differential diagnosis, including a brief literature review. LG is an aggressive multiorgan disease that primarily affects the adult lung. There are no specific presumptive clinical and laboratory findings, including tumor markers and imaging techniques, that distinguish LG from other pulmonary nodular lesions. The most important diagnostic aid is to bear this entity in mind when a child presents with pulmonary nodule associated with intractable long-lasting symptoms. Open lung biopsy and total excision is mandatory for the appropriate diagnosis and treatment.

Child, Preschool↗

PubMed1999

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type neuronal migration disorder of the brain. A similar combination of muscle and brain involvement is also seen in Walker-Warburg syndrome (WWS) and Fukuyama congenital muscular dystrophy (FCMD). Whereas the gene underlying FCMD has been mapped and cloned, the genetic location of the WWS gene is still unknown. Here we report the assignment of the MEB gene to chromosome 1p32-p34 by linkage analysis and homozygosity mapping in eight families with 12 affected individuals. After a genomewide search for linkage in four affected sib pairs had pinpointed the assignment to 1p, the MEB locus was more precisely assigned to a 9-cM interval flanked by markers D1S200 proximally and D1S211 distally. Multipoint linkage analysis gave a maximum LOD score of 6.17 at locus D1S2677. These findings provide a starting point for the positional cloning of the disease gene, which may play an important role in muscle function and brain development. It also provides an opportunity to test other congenital muscular dystrophy phenotypes, in particular WWS, for linkage to the same locus.

Blindness↗

PubMed1998

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings.

The evidence of severe structural brain abnormalities in association with severe mental retardation is characteristic in congenital muscular dystrophy (CMD) forms other than the 'classical' form. However, it seems that the nosology of CMD is not complete yet, as we have clinical, immunohistochemical and genetic data suggesting that there are other unclassified forms. Here we report two CMD siblings from a consanguineous family with partial merosin-deficiency in muscle biopsies, severe mental retardation and normal MRI of the brain. The disease was not linked to the LAMA2 gene (6q22-23) or to Fukuyama congenital muscular dystrophy (FCMD) (9q31-33). To our knowledge, such an association may constitute a new entity within the broad clinical spectrum of CMD.

Brain↗

PubMed1997

Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families.

Merosin-positive congenital muscular dystrophy is a heterogenous group of disorders with varying clinical presentations and severity. In general, central nervous system involvement is not present. There is also evidence for still unclassified forms. Here we report three cases in two families with merosin-positive congenital muscular dystrophy, mild mental retardation, bilateral cataracts and normal cranial magnetic resonance imaging. To our knowledge, such an association has not been reported previously, and thus is a new entity within congenital muscular dystrophy nosology.

Biopsy↗

PubMedDate not supplied

Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy.

The clinical features of merosin-positive congenital muscular dystrophy (CMD) and merosin-deficient CMD are well known, with those of merosin-deficient CMD being more severe. Whether the severity of histopathological findings correlates with these clinical features remains unanswered. In this study, the clinical and histopathological findings of 39 merosin-deficient and 37 merosin-positive CMD patients were compared. Merosin-deficient CMD patients were found to be younger, with earlier onset of symptoms, age of diagnosis, and a more severe clinical state (reflecting maximum motor capacity and contractures). On histopathological evaluation, endomysial fibrosis, perimysial fibrosis, and histopathological state (reflecting fibrosis, adiposis, necrosis, and variation in fiber size) were more severe in merosin-deficient CMD. There was a correlation between clinical and histopathological states only in merosin-deficient CMD.

Adolescent↗

PubMedDate not supplied

Pyogenic granuloma with multiple dissemination in a burn lesion.

Pyogenic granuloma is a common vascular lesion in childhood. The occurrence of pyogenic granulomas after various kinds of trauma to the skin is quite common; however, multiple lesions secondary to a burn are very rare. For this reason, an 18-month-old girl with multiple pyogenic granulomas following a second-degree burn is reported.

Burns↗

PubMedDate not supplied

MR imaging of pelvic and thigh muscles in congenital muscular dystrophy.

To define and compare the magnetic resonance (MR) imaging findings of pelvic and thigh muscles in merosin-deficient and merosin-positive congenital muscular dystrophy, 10 patients with merosin-positive and six patients with merosin-deficient muscular dystrophy were examined in a 0.5 T MR imaging unit. Intensity and atrophy scores were given to individual muscles by two radiologists and were calculated for three muscle groups (pelvic, anterior thigh and posterior thigh muscles). Rectus femoris was affected less than the vastus muscles in 40 percent of cases in merosin-positive patients, whereas there was no selective sparing in merosin-deficient patients. Sartorius and gracilis were relatively spared in both groups. The most consistently affected muscles were gluteus maximus, adductor magnus and brevis in merosin-positive patients. Atrophy was more prominent in the adductor muscles in the merosin-deficient group. Intensity scores of anterior thigh muscles of the merosin-positive group were significantly higher than those of the merosin-deficient group (U = 8, p = 0.016). When stepwise logistic regression model was applied, intensity score of the anterior thigh muscles was found to be the best differentiating variable. The regression analysis model formed was able to differentiate the two forms with a sensitivity of 80 percent and specificity of 83 percent.

Child↗

PubMedDate not supplied

The role of heterotopic gastric mucosa with or without colonization of Helicobacter pylori upon the diverse symptomatology of Meckel's diverticulum in children.

The roles of heterotopic gastric mucosa either with or without colonization of Helicobacter pylori (HP) upon the diverse symptomatology of Meckel's diverticulum (MD) in children have been evaluated retrospectively. The medical records of 92 patients who underwent MD excision either incidentally or symptomatically between 1976 and 1997 were reviewed retrospectively. Age at admission and symptoms were recorded. The slides were stained with hematoxylin eosin and Giemsa to identify the presence of heterotopic tissue, ulceration, hemorrhage, inflammation and HP. Bleeding, obstruction and inflammatory groups were statistically compared with chi-square test. The age of the patients ranged between 1 day and 14 years with a mean of 3.5+/-3.8 years. The male: female ratio was 3.6:1. Among 92 MD, 18 (19.5%) were remove incidentally, one of which had heterotopic gastric mucosa. The indications fo surgical removal of MD were intestinal obstruction, diverticulitis and bleeding in 45 (48.9%), 11 (11.9%) and 18 (19.5%) patients, respectively. Heterotopic gastric mucosa was detected in 28 (30.4%) patients, of whom 8, 3, and 16 presented with intestinal obstruction, diverticulitis and bleeding, respectively. Helicobacter pylori was not detected in one patient with incidental removal of MD; with heterotopic gastric mucosa however, three patients with obstruction, one patient with diverticulitis and one patient with bleeding had HP in the heterotopic gastric mucosa located in MD. MD may become symptomatic due to a complicated course such as rectal bleeding, intestinal obstruction or diverticulitis. The presence of heterotopic gastric mucosa in MD seems to mainly associate with rectal bleeding. The presence of HP colonization in heterotopic gastric mucosa does not increase the incidence of rectal bleeding. The other complications of MD, including intestinal obstruction and diverticulitis, are not directly related to the presence of heterotopic gastric mucosa in the MD. However, colonization of heterotopic gastric mucosa by HP seems to increase the incidence of these complications.

Adolescent↗

PubMedDate not supplied

Congenital epulis of the newborn. A case report.

Congenital epulis of the newborn is a rare benign tumor, also known as a congenital gingival granular cell tumor. Although it is a benign lesion, the tumor may cause feeding and respiratory problems when too large or when multiple tumors exist. In this article, a case of congenital epulis is presented and its treatment is discussed.

Diagnosis, Differential↗