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A Hameed

Publications and source records attributed to A Hameed.

At least 37 records · Page 2Linked to original sources
PubMed2001

Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous.

PURPOSE: To map the disease locus in a six-generation, consanguineous Pakistani family affected by nonsyndromic autosomal recessive persistent hyperplastic primary vitreous (arPHPV). All affected individuals had peripheral anterior synechiae and corneal opacities with variable degrees of cataract and a retrolenticular white mass behind the lens. METHODS: Genomic DNA from family members was typed for alleles at more than 400 known polymorphic genetic markers, by polymerase chain reaction. Alleles were assigned to individuals, which allowed calculation of lod scores. RESULTS: A maximum two-point lod score of 4.07 was obtained with marker D10S1225 with no recombination. Two recombinations with marker D10S208 and D10S537 localized the disease within a region of approximately 30 centimorgans (cM). However, homozygosity across the region refined the arPHPV locus to 13 cM. CONCLUSIONS: Linkage analysis shows localization of nonsyndromic arPHPV to chromosome10q11-q21.

Adolescent↗
PubMed2000

Fine-needle aspiration cytology of primary granulosa cell tumor of the adrenal gland: a case report.

Extraovarian granulosa cell tumors are extremely rare. We report on a primary granulosa cell tumor of the adrenal gland. A 69-yr-old African-American female presented with a 1-yr history of irregular uterine bleeding and a palpable right abdominal mass. CT scan showed a 9.0-cm suprarenal mass as well as an enlarged uterus. CT-guided fine-needle aspiration (FNA) cytology of the adrenal mass was interpreted as a malignant neoplasm. She underwent exploratory laparotomy, right nephrectomy, and hysterectomy with bilateral salpingo-oophorectomy. The gross, histologic, and immunohistochemical findings of the adrenal mass were characteristic of a granulosa cell tumor. The uterus contained multiple leiomyomas. The endometrium showed simple hyperplasia. Both fallopian tubes and ovaries showed no pathologic abnormality. There was no evidence of tumor elsewhere. Although rare, extraovarian granulosa cell tumor should be considered in the differential diagnosis of adrenal tumors in women showing the FNA features described herein, especially when there is evidence of excessive estrogen production. Diagn. Cytopathol. 2000;22:107-109.

Adrenal Gland Neoplasms↗
PubMed2000

Hyalinizing clear-cell carcinoma of salivary glands in fine-needle aspiration.

Hyalinizing clear-cell carcinoma (HCCC) is a recently described distinctive salivary gland neoplasm. Because of its cytoplasmic clearing and the bland nuclear features, HCCC resembles other tumors. The authors describe the cytomorphologic features of four cases of HCCC in fine-needle aspirates (FNA) and discuss the differential diagnosis. Fine-needle aspirates from 4 patients with primary HCCC of minor salivary glands were reviewed. Smears were stained with Diff-Quik and Papanicolaou stains. The cytologic features of the epithelial and the stromal components were analyzed. Cell blocks were prepared, and findings were correlated with prior or subsequent surgical specimens in each case. The smears contained numerous cohesive small and large epithelial cell groups and sheets which had sharp outlines and showed focal nuclear overlapping. The cells had uniform round to ovoid nuclei, granular chromatin, and small nucleoli. The abundant, well-defined cytoplasm was clear in many cells but denser in others. No myoepithelial cells or hyaline globules were identified. HCCC seems to have characteristic cytomorphologic findings on FNA smears. Because these cytologic features are not specific, and overlap with those of a number of salivary gland neoplasms that contain clear cells, a high level of suspicion, clinico-pathologic correlation, and examination of cell blocks are necessary to suggest the diagnosis. A diagnosis of HCCC by FNA was suspected in 3 of the 4 cases reported here.

Adenocarcinoma, Clear Cell↗
PubMed2000

Uterine metastasis from a heterologous metaplastic breast carcinoma simulating a primary uterine malignancy.

OBJECTIVE: To describe the first distant metastasis of a heterologous metaplastic breast carcinoma in the uterus and discuss its differential diagnosis. METHODS: Light microscopy, immunohistochemistry, and flow cytometry were used to evaluate the tumor. RESULTS: A 58-year-old woman underwent mastectomy for metaplastic breast carcinoma confined to the breast. She presented 4 years later with vaginal bleeding. The endometrial curettage showed a poorly differentiated carcinoma. She underwent hysterectomy and bilateral salpingo-oophorectomy as well as pelvic and periaortic lymphadenectomy. Clinical and intraoperative findings favored a primary uterine malignancy. The uterus was markedly distorted with multiple gray-white, solid subserosal, and intramural tumor nodules. The tumor diffusely infiltrated the endometrium sparing benign endometrial glands. The tumor nodules were distributed full thickness of the myometrium. These nodules were composed of high-grade malignant epithelial cells with areas of chondroid metaplasia. Extrauterine microscopic tumor was present in left ovary, pelvic, and periaortic lymph nodes. The histologic features and estrogen/progesterone receptors (ER/PR) as well as DNA ploidy analysis of the uterine tumor showed striking similarity with those of the primary metaplastic breast carcinoma. A diagnosis of metastatic metaplastic breast carcinoma in the uterus was rendered. CONCLUSION: A metastatic heterologous metaplastic breast carcinoma with cartilaginous metaplasia should be considered in the differential diagnosis of heterologous uterine malignant mixed mesodermal tumor (MMMT) and high-grade endometrioid carcinoma with rare foci of cartilage.

Breast Neoplasms↗
PubMed2000

P53 mutations, polymorphisms, and haplotypes in Pakistani ethnic groups and breast cancer patients.

Inactivation of the p53 gene has been found to be associated with the pathogenesis of several neoplasias. Three biallelic polymorphisms in the p53 gene have been linked to predisposition to the development of various malignancies. These include a 16-bp duplication in intron 3 and BstU I and Msp I restriction fragment length polymorphisms (RFLPs) in exon 4 and intron 6, respectively. The prevalence of these polymorphisms was studied in breast cancer patients and nine major ethnic groups of Pakistan. Differences in allele frequencies for all three polymorphisms were observed among the various ethnic groups and breast cancer patients. The absence of the 16-bp duplication was common among the northern ethnic groups, being highest in the Hazara (0.90). The Msp I A1 allele frequency in the southern Makrani population was significantly higher in comparison with the other ethnic groups. In the cancer patients, the absence of the 16-bp duplication in combination with the BstU I Pro and absence of Msp I restriction site were the most frequent. In these patients, ten substitution mutations were found in the p53 gene, seven of which have been reported previously for breast cancer. The remaining three mutations have been found in other malignancies, but not in carcinoma of the breast.

Alleles↗
PubMed2000

Endometrial endometrioid carcinomas associated with Ewing sarcoma/peripheral primitive neuroectodermal tumor.

Three uterine tumors, each consisting of endometrioid carcinoma and Ewing's sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) are described. The diagnosis of ES/pPNET in each case was first established in the hysterectomy specimen because each ES/pPNET was misinterpreted on the endometrial biopsy specimens as a high-grade homologous sarcoma. The ES/pPNET element in each case consisted of solid masses of small- to medium-sized round cells without Homer-Wright pseudorosettes, glial or ganglion cells, true rosettes with central lumens, or medulloepithelial tubules. Each ES/pPNET exhibited focal positive immunostaining for neuron-specific enolase, diffuse staining for vimentin, and strong cell membrane immunoreactivity for O13 (CD99), the last finding providing the first clue to the diagnosis of ES/pPNET in each case. The diagnosis in each case was confirmed by detection of EWS/FLI-1 fusion transcript through reverse transcription polymerase chain reaction. We also examined O13 immunoreactivity retrospectively in 40 cases of malignant mixed mullerian tumors (MMMT) with homologous or heterologous elements. O13 immunoreactivity was not observed in the malignant epithelium or in the homologous or heterologous sarcomas. The immunoreactivity of O13 in round cell endometrial sarcomas provides a clue to the diagnosis of ES/pPNET.

12E7 Antigen↗
PubMed2000

Ectopic production and localization of beta-human chorionic gonadotropin in lymphoepithelioma-like carcinoma of the cervix: a case report.

A 32-year-old woman underwent a suction curettage for missed abortion. The initial serum human chorionic gonadotropin (beta-hCG) level was 40 IU/ml. The histologic examination of the uterine curettage specimen showed scant strips of a poorly differentiated malignant neoplasm and no chorionic villi. The tumor showed strong immunoreactivity for cytokeratin (AE1/AE3) and beta-hCG but no reactivity for human placental lactogen. The combination of histologic appearance, beta-hCG immunoreactivity, and elevation of serum beta-hCG raised a strong suspicion for epithelioid trophoblastic tumor (ETT). Postcurettage serial serum beta-hCG levels remained in the range of 20 to 45 micrograms/ml. Computerized tomographic scan showed a 1.0-cm circumscribed mass in the upper endocervix. A radical hysterectomy and pelvic lymphadenectomy were performed. Gross examination of the hysterectomy specimen likewise showed a well-circumscribed mass in the upper endocervix. Histologic examination revealed an undifferentiated carcinoma accompanied by intense lymphoplasmacytic infiltrate. A final diagnosis of lymphoepithelioma-like carcinoma (LELC) was rendered. LELC with elevated serum beta-hCG level and immunoreactivity to beta-hCG should be distinguished from ETT in a small endocervical curettage sample.

Abortion, Missed↗
PubMed2000

Adenomyofibroma of the endometrium with skeletal muscle differentiation.

A case of adenomyofibroma with skeletal muscle differentiation is described. A 55-year-old asymptomatic woman had atypical glandular cells of undetermined significance on a routine Papanicolaou smear. The endometrial biopsy revealed fragments composed of benign endometrial glands and myofibromatous stroma with foci of skeletal muscle differentiation. The stroma exhibited focal mild cytologic atypia and hypercellularity without periglandular cuffing or mitoses. Electron microscopy and immunohistochemical staining for myoglobin confirmed the skeletal muscle differentiation. A diagnosis of low-grade adenosarcoma with heterologous differentiation was made in the biopsy specimen based on the atypical stroma, the skeletal muscle differentiation, and previous observations that adenosarcomas may contain bland areas indistinguishable from an adenofibroma. The patient underwent hysterectomy, bilateral salpingo-oophorectomy, and pelvic lymphadenectomy. The hysterectomy specimen revealed small foci of residual tumor. In light of these findings the diagnosis was revised to adenomyofibroma with skeletal muscle differentiation. Uterine adenomyofibroma with skeletal muscle differentiation should be distinguished from a low-grade adenosarcoma in an endometrial biopsy.

Adenofibroma↗
PubMed2000

A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.

PURPOSE: A two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000) and keratoconus was identified. All affected individuals have bilateral keratoconus and congenital pigmentary retinopathy. The goal of this study was to link the disease phenotype in this family. METHODS: Genomic DNA was amplified across the polymorphic microsatellite poly-CA regions identified by markers. Polymerase chain reaction (PCR) products were separated by nondenaturing polyacrylamide gel electrophoresis. Alleles were assigned to individuals, which allowed calculation of LOD scores using the Cyrillic and MLINK software program. The retinal guanylate cyclase (RETGC-1, GDB symbol GUC2D) and pigment epithelium-derived factor (PEDF) genes were analyzed by heteroduplex analysis and direct sequencing for mutations in diseased individuals. RESULTS: Based on a whole genome linkage analysis the first locus for this combined phenotype has been mapped to chromosome 17p13. Linkage analysis gave a two point LOD score of 3.21 for marker D17S829. Surrounding this marker is a region of homozygosity of 15.77 cM, between the markers D17S1866 and D17S960; however, the crossover for the marker D17S1529 refines the region to 10.77 cM within which the disease gene is predicted to lie. Mutation screening of the nearby RETGC-1 gene, which has been shown to be associated with LCA1, revealed no mutations in the affected individuals of this family. Similarly, another prime candidate in the region PEDF was also screened for mutations. The factor has been shown to be involved in the photoreceptor differentiation and neuronal survival. No mutations were found in this gene either. Furthermore, RETGC-1 was physically excluded from the critical disease region based on the existing physical map. CONCLUSIONS: It is therefore suggested that this combined phenotype maps to a new locus and is due to an as yet uncharacterized gene within the 17p13 chromosomal region.

Blindness↗
PubMed2000

Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24.

PURPOSE: To map the disease locus of a two-generation, consanguineous Pakistani family with autosomal recessive cone-rod dystrophy (arCRD). All affected individuals had night blindness, deterioration of central vision, photophobia, epiphora in bright light, and problems with color distinction. Fundoscopy revealed marked macular degeneration and attenuation of retinal vessels. Mild pigmentary changes were present in the periphery. METHODS: Genomic DNA was amplified across the polymorphic microsatellite poly-CA regions identified by markers. Alleles were assigned to individuals that allowed calculation of LOD scores using the Cyrillic (Cherwell Scientific, Oxford, UK) and MLINK (accessed from ftp://linkage. rockefeller.edu/softeware/linkage/) software programs. The cellular retinoic acid-binding protein 2 (CRABP2), cone transducin alpha-subunit (GNAT2), potassium inwardly rectifying channel, subfamily J, member 10 (KCNJ10), genes were analyzed by heteroduplex analysis and direct sequencing for mutations. RESULTS: A new locus for arCRD (CORD8) has been mapped to chromosome 1q12-q24. A maximum two-point LOD score of 4.22 was obtained with marker D1S2635 at recombination fraction of theta = 0.00. Two critical recombinations in the pedigree positioned this locus to a region flanked by markers D1S457 and D1S2681. A region of homozygosity was observed within the loci D1S442 and D1S2681, giving a probable critical disease interval of 21 cM. Mutation screening of the three candidate genes CRABP2, GNAT2, and KCNJ10 revealed no disease-associated mutations. CONCLUSIONS: The findings therefore suggest that this phenotype maps to a new locus and is due to an as yet uncharacterized gene within the 1q12-q24 chromosomal region.

Adolescent↗
PubMed2000

RP1 protein truncating mutations predominate at the RP1 adRP locus.

PURPOSE: Recent reports have shown that the autosomal dominant retinitis pigmentosa (adRP) phenotype linked to the pericentric region of chromosome 8 is associated with mutations in a gene designated RP1. Screening of the whole gene in a large cohort of patients has not been undertaken to date. To assess the involvement and character of RP1 mutations in adRP, the gene was screened in a panel of 266 unrelated patients of British origin and a Pakistani family linked to this locus. METHODS: Patients exhibiting the adRP phenotype were screened for mutations in the four exons of the RP1 gene by heteroduplex analysis and direct sequencing. Linkage of the Pakistani family was achieved using microsatellite markers. Polymerase chain reaction (PCR) products were separated by nondenaturing polyacrylamide gel electrophoresis. Alleles were assigned to individuals, which allowed calculation of LOD scores. Microsatellite marker haplotyping was used to determine ancestry of patients carrying the same mutation. RESULTS: In the 266 British patients and 1 Pakistani family analyzed, 21 loss-of-function mutations and 7 amino acid substitutions were identified, some of which may also be disease-causing. The mutations, many of which were deletion or insertion events, were clustered in the 5' end of exon 4. Most mutations resulted in a premature termination codon in the mRNA. Haplotype analysis of nine patients carrying an R677X mutation suggested that these patients are not ancestrally related. CONCLUSIONS: RP1 mutations account for 8% to 10% of the mutations in our cohort of British patients. The most common disease-causing mechanism is deduced to be one involving the presence of a truncated protein. Mutations in RP1 have now been described in adRP patients of four ethnically diverse populations. The different disease haplotype seen in the nine patients carrying the same mutation suggests that this mutation has arisen independently many times, possibly due to a mutation hot spot in this part of the gene.

Cohort Studies↗
PubMed1999

Fine-needle aspiration cytological features of dermoid cyst of the parotid gland: a report of two cases.

We describe the cytological features of dermoid cyst of the parotid gland the value of preoperative diagnosis by fine-needle aspiration (FNA) cytological evaluation. Both patients had painless parotid masses. On physical examination, a freely movable parotid mass was found in each case. CT scan showed a cystic mass in the parotid gland in each patient. FNA in both cases showed anucleated and nucleated squamous epithelium and keratin debris. The clinical features and cytological findings in each case were interpreted as suggestive of a dermoid cyst. Histological examination of surgical specimens confirmed the presence of a dermoid cyst of the parotid gland in each case. FNA is a reliable method for preoperative diagnosis and permits selection of an appropriate form of surgical procedure for dermoid cyst of the parotid gland.

Adult↗
PubMed1999

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online.

Mutations in the rhodopsin gene are reported to be responsible for approximately 25% of all cases of autosomal dominant Retinitis pigmentosa (adRP). Affected individuals from a large family with an unusually severe form of adRP were screened for mutations in the rhodopsin gene. Direct sequencing of exon 5 revealed a TAA to GAA transversion at nucleotide 5276/codon 349, which was confirmed by Dde1 restriction digest analysis. This change would replace the normal termination codon with a glutamic acid residue (Ter-349-Glu, or X349E). The next predicted termination codon (TAA) lies 153bp downstream at nucleotides 5429 to 5431. Termination of transcription at this point would add an additional 51 amino-acid residues to the carboxy terminus of the rhodopsin molecule. This mutation is unique in producing a mutant rhodopsin in which all of the normal 348 amino-acid residues remain intact. It produces one of the most severe adRP phenotypes ever observed in a family with a rhodopsin mutation. In view of this the Ter-349-Glu mutation is worthy of further investigation to determine how the presence of this particular mutant opsin leads to rod photoreceptor degeneration.

Amino Acid Substitution↗
PubMed1999

Favorable response of Eisenmenger syndrome to inhaled nitric oxide during pregnancy.

OBJECTIVE: Our goal was to evaluate the effectiveness of therapy with a specific pulmonary vasodilator, nitric oxide, in a woman with Eisenmenger syndrome during pregnancy. STUDY DESIGN: Eisenmenger syndrome consists of a congenital communication between the systemic and pulmonary circulation with secondary pulmonary hypertension causing reversal of flow through the shunt. Maternal morbidity is approximately 50% with the greatest risk of death being in the peripartum period. Pharmacologic therapy to relieve worsening pulmonary hypertension is confounded by the undesired effects of vasodilators on the systemic circulation. Therapy with a specific pulmonary vasodilator, nitric oxide, was attempted. RESULTS: A 27-year-old woman with Eisenmenger syndrome at 36 weeks' gestation was treated with inhaled nitric oxide during the second stage of labor and the postpartum period when she experienced progressive refractory hypoxemia. Administration of nitric oxide was followed by improved oxygenation and lowering of pulmonary artery pressures. A brief episode of methemoglobinemia responded to lowering of the nitric oxide concentration and administration of intravenous methylene blue. Nitric oxide was discontinued after 48 hours. The patient died 2 days later despite continued vasodilator therapy including intra-pulmonary artery prostacyclin. CONCLUSION: Inhaled nitric oxide can be used to correct the hypoxemia of Eisenmenger syndrome. Nitric oxide inhalation is easily performed, and pulmonary vasodilatory effects commence within minutes after administration.

Administration, Inhalation↗
PubMed1999

Microscopic Nikolsky's sign.

Nikolsky's sign is a useful clinical sign in patients with active pemphigus. It does not however, indicate the level of split in the skin, and is seldom present in partially-treated patients. The purpose of this study was two fold: (i) to document the microscopic or subclinical counterpart of clinical Nikolsky's sign; and (ii) to improve the diagnostic yield of routine histopathology in pemphigus patients in whom the lesions are infected/old and are therefore not useful for histopathology, and when intact blisters are not present; this is particularly useful for institutions in which immunofluorescence facilities are not available. Pemphigus patients were allocated to one of two groups. Group A patients (n = 23) were subjected to manual tangential pressure over the perilesional skin before a biopsy specimen was taken from that site; group B patients (n = 14) were subjected to a biopsy without the tangential pressure technique. Group C consisted of 37 healthy volunteers who were subjected to the tangential pressure technique before a biopsy. Histopathological changes of pemphigus vulgaris or foliaceus were present in 73.9% patients in group A, 28.6% in group B and none in the control group C. Tangential pressure as described below can produce microscopic changes in the epidermis which are diagnostic of pemphigus. These changes are produced at the suprabasal level in pemphigus vulgaris and intraepidermally in pemphigus foliaceus. This technique is of value in those parts of the world where immunofluorescence facilities are not readily available.

Biopsy↗
PubMed1999

Frequent expression of beta-human chorionic gonadotropin (beta-hCG) in squamous cell carcinoma of the cervix.

Human chorionic gonadotropin (beta-hCG) has been detected within tissue homogenates, culture fluid, and sera of patients with squamous cell carcinoma of the cervix. Studies regarding in vivo localization of beta-hCG in squamous cell carcinoma of the cervix are scant and conflicting. Cervical samplings (biopsy and/or curettage specimens) of 63 cases of poorly differentiated invasive squamous cell carcinoma of the cervix were initially stained by the immunoperoxidase technique for the presence of beta-hCG and human placental lactogen (hPL). Based on beta-hCG reactivity, patients were divided into beta-hCG-positive and beta-hCG-negative groups. Thirty-three of the 63 (52%) cases showed localization of beta-hCG in tumor cells. Subsequent specimens of patients, who underwent surgical treatment, were likewise examined for beta-hCG reactivity. These surgical specimens showed focal beta-hCG reactivity in the beta-hCG-positive group only. The beta-hCG reactivity was seen in both high-grade SIL (CIN III), invasive squamous cell carcinoma, and its metastases. The focal beta-hCG reactivity was predominantly confined to the peripheral tumor cells at the stromal-epithelial interface in noninvasive and invasive lesions. Intensity of immunostaining was moderate to strong. The beta-hCG staining was observed in different cancer stages and in various age groups. No hPL reactivity was seen in any cases. Poorly differentiated squamous cell carcinoma of uterine cervix showing immunoreactivity for beta-hCG should be distinguished from choriocarcinoma and other trophoblastic tumors.

Adult↗
PubMed1999

Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.

BACKGROUND: Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait. METHODS: Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus for isolated microphthalmia was mapped to chromosome 14q32. Eight members of this family underwent clinical examination to determine the nature of the microphthalmia phenotype associated with this locus. RESULTS: All affected individuals in this family suffered from bilateral microphthalmia in association with anterior segment abnormalities, and the best visual acuity achieved was "perception of light". Corneal changes included partial or complete congenital sclerocornea, and the later development of corneal vascularisation and anterior staphyloma. Intraocular pressure, as measured by Schiotz tonometry, was greatly elevated in many cases. CONCLUSIONS: This combination of ocular defects suggests an embryological disorder involving tissues derived from both the neuroectoderm and neural crest. Other families with defects in the microphthalmia gene located on 14q32 may have a similar ocular phenotype aiding their identification.

Adolescent↗