Tubulolobular carcinoma of the breast with grooved and cerebriform nuclei: failure to identify this specific subtype in a case during routine fine needle aspiration cytology and histopathological diagnosis

Tubulolobular carcinoma (TLC) is a rare tumor of the breast in which histologic features of both tubular and lobular carcinoma are combined. We report a case of TLC, in which the specific subtype was missed at routine cytologic and histopathological examination. A 69-year-old woman presented with a right breast lump. Imaging studies indicated a malignant lesion in right upper quadrant. Routine fine needle aspiration (FNA) cytology diagnosis was a duct cell carcinoma (small cell type). In a setting of cystic thyroid lesions, presence of excessive nuclear grooves, and rare intranuclear cytoplasmic inclusion, metastatic papillary thyroid carcinoma was also considered. However, both these possibilities were not supported by immunocytochemical findings (estrogen receptor+, thyroglobulin-, and chromogranin-). The histopathology diagnosis was invasive duct cell carcinoma. Review of FNA smears and paraffin sections led to the diagnosis of TLC, which was supported by positive immunohistochemical stainings for markers like e-cadherin and β-catein.     

Molecular and clinical evaluation of primary congenital glaucoma in Kuwait

PURPOSE: To report the spectrum of the CYP1B1 mutation in Kuwaiti patients with primary congenital glaucoma (PCG). DESIGN: Clinical diagnosis of PCG and laboratory based experimental study. METHODS: Polymerase chain reaction-restriction polymorphism length fragment (PCR-RPLF) and direct sequencing of exon 2 and the coding region of exon 3 of CYP1B1 gene were the methods used for screening 17 PCG patients, their families, and 105 health individuals from the same ethnicity. RESULTS: Four different mutations were detected in CYP1B1 in 70.6% of the screened patients. The most common one (47%) was homozygote Gly61Glu mutation, previously described in Saudi Arabia, Turkey, and Morocco; all patients were products of consanguineous marriages. The second common mutation was a novel missense (Ala388Thr) mutation found in three patients (17.6%) as compound heterozygote with Arg368His in one patient, and with Gly61Glu in another one while the second mutation in third patient was not detected in the CYP1B1 gene. One patient (5.8%) was homozygote for Cyt280X mutation previously reported in only one Japanese family. In addition to these mutations, a novel Val422Gly polymorphic site was found in three of the PCG patients and in 18 of the 210 tested chromosomes of healthy volunteers. CONCLUSIONS: The CYP1B1 mutation spectrum of Kuwaiti PCG patients is similar to that detected in the neighboring countries. No clear genotype-phenotype correlation detected in patients showed different types of CYP1B1 mutation.     

Chemical composition, antibacterial and antifungal activities of the essential oil of Haplophyllum tuberculatum from Oman

The chemical composition of the essential oil of Haplophyllum tuberculatum (Forsskal) A. Juss (Rutaceae) was analyzed by gas chromatography-mass spectral (GC-MS) and 13C NMR spectroscopy. Thirty compounds, constituting about 99.7% of the total oil, were identified. The most abundant oil components are beta-phellandrene (23.3%), limonene (12.6%), (Z)-beta-ocimene (12.3%), beta-caryophyllene (11.6%), myrcene (11.3%), and alpha-phellandrene (10.9%). Ten microlitres (25 mg) of pure oil partially inhibited the growth of Escherichia coli, Salmonella choleraesuis, and Bacillus subtilis to the same extent as 0.10 microg of gentamycin sulfate. The oil also affected the mycelial growth of Curvularia lunata and Fusarium oxysporium in a dose-dependent manner but had no effect on the germination of their spores.     

Cysticercosis: imported and autochthonous infections in Kuwait

Intracerebral and non-central nervous system (non-CNS) cysticercosis caused by the larval pork tapeworm Taenia solium was diagnosed in patients in an Islamic state. The mode of transmission and challenges in diagnosis are highlighted. Sixteen patients with neurocysticercosis and six with non-CNS lesions were diagnosed by imaging studies (computerized tomography [CT]/magnetic resonance imaging [MRI]) and serology (ELISA and/or enzyme-linked immunoelectrotransfer blot assay [EITB]). Four of 55 family members, including servants, tested for antibodies were positive by the EITB and ELISA. Only one of these sera tested for antibodies to adult T. solium was positive: that of the cook, the probable source of the infection. We postulate a similar mode of transmission in the other Kuwaitis. Evaluation of several commercially available ELISA kits showed they were of poor specificity. Even in countries where pork consumption is proscribed by religious laws, physicians should include cysticercosis in their differential diagnosis in patients with neurological symptoms or non-CNS lesions, especially in non-endemic countries with a large expatriate population such as Kuwait. In children particularly, and in this region, suspected tuberculous lesions on CT must be investigated to rule out cysticerci by a more diligent use of the sensitive and specific EITB assay. Failure to understand the local epidemiology leads to empirical, inappropriate and prolonged therapy for chronic disease.     

Multiple subcutaneous angiolipomas associated with new-onset diabetes mellitus

A 44‐year‐old Hispanic man, with a past medical history of diabetes mellitus type 2 and cerebrovascular accident, presented to the Mount Sinai Department of Dermatology with sudden, fast‐growing nodules over both of his shins. Approximately 2 months before the appearance of the nodules, the patient was diagnosed with diabetes mellitus type 2 with hemoglobin A_1c (HbA_1c) of 8.5%. The patient was taking metformin orally, 500 mg three times daily, at the time of presentation. Six nodules appeared over a period of days. They caused a burning, throbbing pain upon ambulation. Over a period of 6 months, the lumps decreased in size, and two totally disappeared. The resolution of the nodules coincided with the control of the patient's diabetes, as demonstrated by HbA_1c of 5.5%. The patient denied trauma to the sites of the nodules. The patient denied any associated purpura or ecchymoses over the nodules. The past medical history was significant for a stroke with residual right hemiparesis at 42 years of age. The family history was negative for similar lesions, but an aunt did have diabetes mellitus type 2. The patient denied alcohol use, smoking, or intravenous drug use. Physical examination was positive for six soft, tender, freely mobile, symmetrical, well‐demarcated, round masses, 1–2 cm in diameter and skin colored, over the anterior aspects of both legs. The patient was obese (body mass index, 38.5). Laboratory tests (barring the initially elevated HbA_1c) were normal. One lesion was excised. Histopathology revealed features typical of an angiolipoma (see Fig. 1a,b ). A karyotype of the angiolipoma was not performed.

Figure 1 Open in figure viewer PowerPoint (a) Prominent vessels filled with fibrin thrombi at the periphery of mature fat lobules. (b) At higher magnification     

Gliclazide directly inhibits arginine-induced glucagon release

Arginine-stimulated insulin and somatostatin release is enhanced by the sulfonylurea gliclazide. In contrast, gliclazide inhibits the glucagon response. The aim of the present study was to investigate whether this inhibition of glucagon release was mediated by a direct suppressive effect of gliclazide or was secondary to the paracrine effect of released somatostatin. To eliminate the paracrine effects of somatostatin, we first perfused isolated rat pancreata with a medium supplemented with 23% of the standard calcium content. Second, we perifused isolated rat islets with a novel and highly specific antagonist of type 2 somatostatin receptor, DC-41-33 (2 micro mol/l), which fully antagonizes the suppressive somatostatin effect on rat A cells. Gliclazide (30 micro mol/l) inhibited glucagon release by 54% in the perfusion experiments, whereas the somatostatin response was nearly abolished. In islet perifusions with DC-41-33, arginine-induced glucagon release was inhibited by 66%. We therefore concluded that gliclazide inhibits glucagon release by a direct action on the pancreatic A cell.     

Molecular bases of beta-thalassemia in the Eastern Province of Saudi Arabia

beta-thalassemia is a group of heterogeneous recessive disorders common in many parts of the world. Al-Qatif and Al-Hassa oases in the Eastern Province of Saudi Arabia are regions known for high frequency of these disorders. Using two molecular methods, based on multiplexing-amplification refractory system and reverse hybridization principles, the spectrum of beta-thalassemia in the region was studied. Sixty-nine subjects with known beta-thalassemia disease and volunteers with high hemoglobin $A(2)(HbA(2))$ and low mean corpuscular volume (MCV) were included in this study. Ten mutations were detected in 91% of the subjects under study. Six of these mutations had previously been observed while the other four mutations are reported here for the first time. In addition, four of the mutations accounted for 76.8% of the subjects studied. IVSII-1 (G > A), IVSI-5 (G > A), and codon 39 (C > T) mutations were found to be the most frequent. However, the frequencies of different mutations reported here are slightly different from those reported earlier. A number of these mutations were also found in the neighboring countries, which can be explained in terms of gene flow.     

Reproductive Health Decision-Making in Perinatally HIV-Infected Adolescents and Young Adults

With widespread access to antiretroviral therapy in the United States, many perinatally HIV-infected (PHIV+) children are surviving into adolescence and adulthood, becoming sexually active and making decisions about their reproductive health. The literature focusing on the reproductive decisions of individuals behaviorally infected with HIV can serve as a springboard for understanding the decision-making process of PHIV+ youth. Yet, there are many differences that critically distinguish reproductive health and related decision-making of PHIV+ youth. Given the potential public health implications of their reproductive decisions, better understanding of factors influencing the decision-making process is needed to help inform the development of salient treatment and prevention interventions. To begin addressing this understudied area, a “think tank” session, comprised of clinicians, medical providers, and researchers with expertise in the area of adolescent HIV, was held in Bethesda, MD, on September 21, 2011. The focus was to explore what is known about factors that influence the reproductive decision-making of PHIV+ adolescents and young adults, determine what important data are needed in order to develop appropriate intervention for PHIV+ youth having children, and to recommend future directions for the field in terms of designing and carrying out collaborative studies. In this report, we summarize the findings from this meeting. The paper is organized around the key themes that emerged, including utilizing a developmental perspective to create an operational definition of reproductive decision-making, integration of psychosocial services with medical management, and how to design future research studies. Case examples are presented and model program components proposed.