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Biomedical subjects

S Göğüş

Publications and source records attributed to S Göğüş.

At least 19 recordsLinked to original sources
PubMed2001

A comparative histopathologic and immunohistopathologic evaluation of cremaster muscles from boys with various inguinoscrotal pathologies.

AIM: It has been hypothesized that the cremaster muscle (CM) might play a part in the pathogenesis of various inguinoscrotal pathologies such as undescended testis and hernia. A prospective study was carried out to determine if CM of boys with hydrocele, inguinal hernia, and undescended testis reveal any histopathological and immunohistopathological alterations. METHODS: Samples of CM from 29 patients presenting with inguinal hernia (15), undescended testis (9), and hydrocele (5), and CM from autopsies of boys without inguinal pathology (2), and samples of internal oblique muscles from patients undergoing laparotomy (3) were obtained. The biopsies were frozen in isopentane-cooled liquid nitrogen, cut in 6 micron sections and stored at -80 degrees C until processed. Sections were stained by hematoxylin-eosin, modified Gomori-trichrome, PAS, Oil Red-O, NADH, SDH and COX. All specimens were evaluated for seven parameters including variation in fibre size, presence of central nucleus, endomysial fibrosis, inflammation, presence of basophilic fibres, increase in perimysial connective tissue, and variation in fibre size between fascicules. The specimens were also evaluated for beta-spectrin, laminin alpha-1 chain, laminin alpha-2 chain, 43 kd distroglycan, and fetal myosin by immunofluorescence. The presence of each parameter was compared, individually and in combination, according to the ages and underlying pathologies. RESULTS: None of the internal oblique muscles were positive for any of the seven parameters. Only one of the two CM obtained during autopsy revealed a slight variation in fibre size. However, fibre size variation and increase in perimysial connective tissue were found in all but one CM from a patient with hernia. The presence or absence of parameters did not differ according to age. Comparison of the groups with inguinal hernia and undescended testis for each of the individual parameters did not reveal significant differences. However, the presence of four or more parameters in each CM was more commonly encountered among patients with undescended testis compared to patients with hernia (p < 0.05). The CM of patients with hydrocele suggested similar findings to patients with inguinal hernia. All of the specimens, regardless of origin, revealed normal sarcolemmal and basal laminal stainings, and fetal myosin was expressed in only two specimens which were obtained from an internal oblique muscle and the CM of a patient with an inguinal hernia. CONCLUSION: The CM of patients with inguinal hernia, hydrocele, and undescended testis reveal histopathological alterations. Furthermore, CM from patients with undescended testis reveal more profound alterations. Whether these alterations reflect a primary muscle pathology or a defect in innervation or changes secondary to inguinoscrotal pathology requires further study.

Child↗
PubMed2000

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.

We report a case of congenital muscular dystrophy with secondary merosin deficiency, structural involvement of the central nervous system and mental retardation in an 8-year-old girl from a consanguineous family. She had early-onset hypotonia, generalized muscle wasting, with weakness especially of the neck muscles, joint contractures, mental retardation and high creatine kinase. Muscle biopsy showed dystrophic changes with partial deficiency of the laminin alpha(2) chain. Cranial magnetic resonance imaging revealed multiple small cysts in the cerebellum, without cerebral cortical dysplasia or white matter changes. The laminin alpha(2) chain (6q2), Fukuyama type congenital muscular dystrophy (9q31-q33) and muscle-eye-brain disease (1p32-p34) loci were all excluded by linkage analysis. We suggest that this case represents a new entity in the nosology of congenital muscular dystrophy.

Central Nervous System Cysts↗
PubMed1999

Granulomatous osteomyelitis of the sternum presenting with a parasternal mass: a possible relation to the bacillus Calmette-Guérin vaccine.

Because they are frequently malignant, swellings of the chest wall during infancy are alarming lesions. Sternal osteomyelitis is a rare condition that may present with a chest wall mass locating in the parasternal region. A parasternal mass of granulomatous osteomyelitic origin is an extremely rare cause with only few case being reported to date. Herein, the authors report on 2 infants presenting with parasternal masses of sternal granulomatous osteomyelitic origin and discuss the possible etiologic role of the bacillus Calmette-Guérin vaccine.

Adjuvants, Immunologic↗
PubMed1998

Chest wall hamartoma: an alarming chest lesion with a benign course.

Chest wall hamartoma is a very rare mass lesion of the chest wall that is manifest at birth or in early infancy with deformity of the thoracic wall and/or varying grades of respiratory distress. The authors report on an 11-month-old infant presenting with chest wall hamartoma who was treated by en bloc excision of the lesion including the involved ribs. They emphasize the importance of early and complete excision of the lesion even in minimally symptomatic patients to avoid lethal respiratory complications, more severe postoperative orthopedic problems, and malignant transformation.

Disease-Free Survival↗
PubMed1998

Myelodysplastic syndrome associated with Griscelli syndrome.

Myelodysplastic syndrome (MDS) in children has been reported to be associated with various constitutional anomalies; however, it has not been described previously in patients with Griscelli syndrome (GS). In this report, we present a case with GS and refractory anemia with an excess of blasts. We believe that careful evaluation of peripheral blood and bone marrow could increase the number of patients who are found to have GS-associated MDS.

Hepatomegaly↗
PubMed1997

Testicular enlargement in patients with 11-hydroxylase deficiency.

Testicular nodules or tumors have been well described in patients with congenital adrenal hyperplasia (CAH) and usually associated with 21-hydroxylase deficiency. The authors report on a 11-hydroxylase--deficient patient presenting bilateral testicular enlargement and review the literature. Testicular biopsy was not very helpful to make differential diagnosis between adrenal rest hyperplasia and Leydig cell tumor. The size of testes regressed after steroid replacement therapy, and this observation was suggestive for adrenal rest hyperplasia. These findings suggest that bilateral testicular enlargement in patients with CAH may occur after excessive adrenocorticotrophic hormone stimulation of cells differentiated from unknown origin. Orchiectomy is not required but bilateral testicular biopsy must be performed.

Adolescent↗
PubMed1997

Granulocytic sarcoma of the scapula: an unusual presentation of acute myeloblastic leukemia.

The unusual presentation of acute myeloblastic leukemia as a scapular granulocytic sarcoma in an infant without systemic manifestations is reported for the first time. Granulocytic sarcoma as a presentation of leukemia should be considered in the differential diagnosis of scapular masses during childhood. Surgery is limited to obtain sufficient tissue for histopathologic diagnosis.

Biopsy↗
PubMed1997

Enteritis cystica profunda causing ileoileal intussusception in a child.

Enteritis cystica profunda (ECP) is an exceedingly rare lesion of the small intestine. It has identical histopathologic features as colitis cystica profunda, which is mainly a disease of adults and a rare benign lesion of the distal colon and rectum of uncertain cause. Only 12 cases of ECP with only one pediatric case, have been reported in English-language medical literature. Here the authors present the second pediatric case of ECP with the literature review and discussion of the etiology.

Adult↗
PubMed1997

Nonsyndromic paucity of interlobular bile ducts: clinical and laboratory findings of 10 cases.

BACKGROUND: Reports concerning nonsyndromic paucity of the interlobular bile ducts are not common. METHODS: The clinical, biochemical, and histological features of ten such children were described. RESULTS: All presented with jaundice, starting in the first month in seven and in the fourth, seventeenth, and thirtieth month in the others. Alcoholic stools were present intermittently in seven and persistently in three patients. Pruritus was a prominent symptom in five. Liver function tests were abnormal in all but one. Liver biopsies were performed at ages of 20 days to 3 years (median 5 months). In addition to a paucity of interlobular bile ducts, histology revealed intracellular cholestasis in all, portal fibrosis in four, and regenerative nodules in two patients. Complications of fat-soluble vitamin deficiency occurred in seven. Therapy consisted of supplementation of those vitamins and administration of cholestyramine, phenobarbital, prednisolone, or ursodeoxycholic acid. While one child had a successful orthotopic liver transplantation, three died. Consanguinity rate was 80% among the parents, and five of the patients had siblings with similar symptoms. CONCLUSIONS: Prognosis of these patients is variable. Differentiation from other forms of cholestasis is important especially to avoid surgery.

Bile Ducts↗
PubMed1997

Germ cell tumours in a brother and sister.

In familial germ cell tumour cases, a normal chromosomal karyotype pattern is rare. We report the findings of germ cell tumours in two siblings with a normal chromosomal karyotype. One of these patients had dysgerminoma in the right ovary and was treated successfully for this. At present, she is 23 years old and has two daughters. The other patient is a 15-year-old boy, who is the brother of the first patient and has mediastinal embryonal carcinoma. Although ultrasonography of the testes showed irregularity in the shape and non-homogeneity of the parenchyma, histopathological examination was found to be normal at the time of diagnosis. At present, he is doing well and his chemotherapy is continuing. Both of them have a normal chromosomal karyotype, 46, XX and 46, XY, respectively. We suggest that children who have a sibling with germ cell tumour should be carefully assessed for development of another germ cell tumour.

Adolescent↗
PubMed1995

Familial intestinal polyatresia syndrome.

Familial multiple-level intestinal atresia is a rare syndrome with autosomal recessive inheritance. Only a few well-documented families have been reported in the medical literature. In this article two new cases from a consanguineous couple are presented. These are the first reported cases of Familial Intestinal Polyatresia Syndrome from Turkey. The importance of this report is that the recognition of multiple intestinal atresias as an invariably fatal syndrome will be helpful for genetic counselling and attempts at early prenatal diagnosis for successive pregnancies in these couples.

Female↗
PubMed1992

Peritoneal hemosiderosis in pediatric patients with nephrogenic ascites.

Nephrogenic ascites associated with maintenance hemodialysis is a complex problem with poorly understood pathophysiology. We report 4 pediatric patients investigated between 1986 and 1990. All the patients treated with maintenance hemodialysis required multiple blood transfusions. Each patient was carefully evaluated for factors potentially relevant to ascites, and serum ferritin levels were found to be extremely high. Peritoneoscopy which was utilized in all patients led to a specific diagnosis of hemosiderosis in the peritoneum and liver biopsies. In 1 patient, lymph node biopsy also showed iron deposition. We believe that iron deposition played a role in changing the permeability of the peritoneum and is presumed to be a pathogenetic factor in nephrogenic ascites.

Ascites↗