Diagnosis of Fanconi Anaemia (FA) in dizygotic twins

In this study we report on a case of FA in dizygotic twins with characteristic congenital abnormalities and the same deletions of the FANCA gene

Correlation coefficient and path analysis of yield and yield attributing characters of rice (Oryza sativa L.) genotypes under reproductive drought stress in the Terai region of Nepal

An experimental trial of nine rice genotypes was conducted in the Agronomy field of the Institute of Agriculture and Animal Science (IAAS) Paklihawa Campus under a randomized block design layout with three replications from July to November of 2022. The aim was to study genetic variability and analyze the character association of yield and yield-attributing components in rice genotypes and their direct and indirect effect on grain yield under reproductive drought stress conditions. Observations on days to flowering (50%), plant height, panicle length, panicle weight, number of grains/panicles, effective panicle/m², grain yield, and 1000 kernel weight were recorded. Grain yield showed a highly positive significant correlation with effective panicle/m² (0.713**), followed by plant height (0.347) and panicle length (0.289). The path coefficient analysis of different traits revealed the highest positive direct effect of the effective panicle per m² (0.748963), followed by panicle length (0.24145) and plant height (0.227505). The highest negative direct effect was shown by the number of grains per panicle (-0.31218). The experimental results revealed that the selection of trait-effective panicle per square meter would be most beneficial for the improvement of yield in rice genotypes facilitating selection and plant breeding programs

Cerebellopontine epidermoid presenting with trigeminal neuralgia for 10 years: a case report

Trigeminal neuralgia, also called tic douloureux, is a common and potentially disabling pain syndrome, which affects the trigeminal or fifth cranial nerve. The precise pathophysiology of Trigeminal neuralgia remains obscure. The disorder causes extreme, sporadic, sudden burning or shock-like face pain that lasts from few seconds to minutes and can be physically and mentally incapacitating. More than one nerve branch can be affected by the disorder. A 55-year-old female presented with pain over the left side of face for 10 years uncontrolled with carbamazepine. On examination the positive findings were reduced sensation by 25% over the left side of face with House and Brackman grade II facial nerve palsy. The corneal reflex was absent on left side. Magnetic resonance imaging showed left cerebellopontine angle (CPA) mass suggestive of an epidermoid involving the Vth nerve and Gasserian ganglion and extending into the middle cranial fossa. She underwent left suboccipital craniectomy and near total excision of the tumor with decompression of the Vth nerve which was fully engulfed by the tumor. Postoperative the VII nerve palsy increased to grade III and she had 50% loss of sensation over left side. She had no further attacks of pain and hence tapered off the carbamazepine. TN caused by cerebellopontine angle epidermoids is uncommon and should be kept in view in all cases presenting with TN. The aim of surgery for epidermoids is to decompress the cranial nerves and brain stem and not total removal with its attendant morbidity and mortality

Population Based Study of 12 Autoimmune Diseases in Sardinia, Italy: Prevalence and Comorbidity

BACKGROUND: The limited availability of prevalence data based on a representative sample of the general population, and the limited number of diseases considered in studies about co-morbidity are the critical factors in study of autoimmune diseases. This paper describes the prevalence of 12 autoimmune diseases in a representative sample of the general population in the South of Sardinia, Italy, and tests the hypothesis of an overall association among these diseases. METHODS: Data were obtained from 21 GPs. The sample included 25,885 people. Prevalence data were expressed with 95% Poisson C.I. The hypothesis of an overall association between autoimmune diseases was tested by evaluating the co-occurrence within individuals. RESULTS: Prevalence per 100,000 are: 552 rheumatoid arthritis, 124 ulcerative colitis, 15 Crohn's disease, 464 type 1 diabetes, 81 systemic lupus erythematosus, 124 celiac disease, 35 myasthenia gravis, 939 psoriasis/psoriatic arthritis, 35 systemic sclerosis, 224 multiple sclerosis, 31 Sjogren's syndrome, and 2,619 autoimmune thyroiditis. An overall association between autoimmune disorders was highlighted. CONCLUSIONS: The comparisons with prevalence reported in current literature do not show outlier values, except possibly for a few diseases like celiac disease and myasthenia gravis. People already affected by a first autoimmune disease have a higher probability of being affected by a second autoimmune disorder. In the present study, the sample size, together with the low overall prevalence of autoimmune diseases in the population, did not allow us to examine which diseases are most frequently associated with other autoimmune diseases. However, this paper makes available an adequate control population for future clinical studies aimed at exploring the co-morbidity of specific pairs of autoimmune disease

Identification of biomarkers in ductal carcinoma in situ of the breast with microinvasion

<p>Abstract</p> <p>Background</p> <p>Widespread use of mammography in breast cancer screening has led to the identification of increasing numbers of patients with ductal carcinoma <it>in situ </it>(DCIS). DCIS of the breast with an area of focal invasion 1 mm or less in diameter is defined as DCIS with microinvasion, DCIS-Mi. Identification of biological differences between DCIS and DCIS-Mi may aid in understanding of the nature and causes of the progression of DCIS to invasiveness.</p> <p>Methods</p> <p>In this study, using resected breast cancer tissues, we compared pure DCIS (52 cases) and DCIS-Mi (28 cases) with regard to pathological findings of intraductal lesions, biological factors, apoptosis-related protein expression, and proliferative capacity through the use of immunohistochemistry and the TdT-mediated dUTP-biotin nick end labeling (TUNEL) method.</p> <p>Results</p> <p>There were no differences in biological factors between DCIS and DCIS-Mi, with respect to levels of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor type 2. The frequency of necrosis and positive expression ratio of survivin and Bax were significantly higher in DCIS-Mi than in DCIS. In addition, apoptotic index, Ki-67 index, and positive Bcl-2 immunolabeling tended to be higher in DCIS-Mi than in DCIS. Multivariate analysis revealed that the presence of necrosis and positive survivin expression were independent factors associated with invasion.</p> <p>Conclusion</p> <p>Compared with DCIS, DCIS-Mi is characterized by a slightly elevated cell proliferation capacity and enhanced apoptosis within the intraductal lesion, both of which are thought to promote the formation of cell necrotic foci. Furthermore, the differential expression of survivin may serve in deciding the response to therapy and may have some prognostic significance.</p

The influence of sentinel lymph node tumour burden on additional lymph node involvement and disease-free survival in cutaneous melanoma – a retrospective analysis of 392 cases

Twenty per cent of sentinel lymph node (SLN)-positive melanoma patients have positive non-SLN lymph nodes in completion lymph node dissection (CLND). We investigated SLN tumour load, non-sentinel positivity and disease-free survival (DFS) to assess whether certain patients could be spared CLND. Sentinel lymph node biopsy was performed on 392 patients between 1999 and 2005. Median observation period was 38.8 months. Sentinel lymph node tumour load did not predict non-SLN positivity: 30.8% of patients with SLN macrometastases (⩾2 mm) and 16.4% with micrometastases (⩽2 mm) had non-SLN positivity (P=0.09). Tumour recurrences after positive SLNs were more than twice as frequent for SLN macrometastases (51.3%) than for micrometastases (24.6%) (P=0.005). For patients with SLN micrometastases, the DFS analysis was worse (P=0.003) when comparing those with positive non-SLNs (60% recurrences) to those without (17.6% recurrences). This difference did not translate into significant differences in DFS: patients with SLN micrometastasis, either with (P=0.022) or without additional positive non-SLNs (P<0.0001), fared worse than patients with tumour-free SLNs. The 2-mm cutoff for SLN tumour load accurately predicts differences in DFS. Non-SLN positivity in CLND, however, cannot be predicted. Therefore, contrary to other studies, no recommendations concerning discontinuation of CLND based on SLN tumour load can be deduced

Cervical intramedullary schwannoma: a case report and review of the literature

Intramedullary schwannomas unrelated with neurofibromatosis are uncommon tumors, but if correctly diagnosed and properly treated they may have a good prognosis

The role of melatonin in the pathogenesis of adolescent idiopathic scoliosis (AIS)

The cause of adolescent idiopathic scoliosis (AIS) in humans remains obscure and probably multifactorial. At present, there is no proven method or test available to identify children or adolescent at risk of developing AIS or identify which of the affected individuals are at risk of progression. Reported associations are linked in pathogenesis rather than etiologic factors. Melatonin may play a role in the pathogenesis of scoliosis (neuroendocrine hypothesis), but at present, the data available cannot clearly show the role of melatonin in producing scoliosis in humans. The data regarding human melatonin levels are mixed at best, and the melatonin deficiency as a causative factor in the etiology of scoliosis cannot be supported. It will be an important issue of future research to investigate the role of melatonin in human biology, the clinical efficacy, and safety of melatonin under different pathological situations. Research is needed to better define the role of all factors in AIS development