Haemophagocytic Lymphohistiocytosis in a Malay infant: Rare, Old and Often Forgotten Disease

Haemophagocytic lymphohistiocytosis (HLH) is a rare disease but potentially life threatening clinical syndrome. It is caused by a multisystemic hyperinflammatory process secondary to severe hypercytokinemia with excessive and uncontrolled activation of the immune response. We report a case of familial HLH with no apparent causes in 6 months-old Malay girl presented with recurrent fever associated with severe anaemia and bleeding tendency requiring extensive treatment but refractory to the treatment which lead to mortality due to neutropenic sepsis indicating of poor prognosis of this disease. This familial type of HLH should be suspected in all children after excluding all the secondary causes with collective laboratory features and requiring extensive management as it associated with high mortality. Bangladesh Journal of Medical Science Vol. 21(1) 2022 Page : 196-200

CLINICO-DEMOGRAPHIC STUDY OF PATIENTS OF ACANTHOSIS NIGRICANS AT SKMCH, MUZAFFARPUR, BIHAR

Aims of the study to evaluate the clinical features and demographic data of acanthosis nigricans and nd out the common disorders associated with acanthosis nigricans. Present study was conducted at Department of Dermatology, Venereology and Leprosy, SKMCH, Muzaffarpur, Bihar. Total 50 patients selected for this study, 47 were female and 3 were male. Most common age group affected with AN in this study is 21- 30 years with 34% patients and another24 % patients were between 11- 20 years and 2% patients were more than 60 years of age. Acanthosis nigricans is a common skin condition which may affect all age group and the list of underlying cause is extensive ranging from a simple benign familial type through syndromic to malignant cause. Clinician should be aware of this and have to nd out the underlying condition and patient should be managed appropriately at the earliest.

RETROSPECTIVE COHORT STUDY: DIFFERENCES AND SIMILARITIES BETWEEN SPORADIC AND FAMILIAL PAPILLARY THYROID CARCINOMA

INTRODUCTION There is a lot of controversy around the study of the familial papillary thyroid carcinoma (CPFT), which has a different behaviour than sporadic. The aim of this investigation is to establish the differences and similarities between sporadic papillary thyroid carcinoma and the familial one in order to determine if the familial type is a more aggressive clinical entity than sporadic. MATERIAL AND METHODS A retrospective cohort study in 231 patients with papillary thyroid carcinoma (CPT) from 2006 to 2018. One group was established according to the presence of two or more relatives as CPFT (n = 46) and the other group were the sporadic cases (n = 185). Throughout this study the clinical-pathological characteristics of both groups were compared based on the analysis of twenty-one variables. RESULTS After having carried out this investigation, statistically significant differences have only been found in the vascular invasion (p < 0.001), presenting 3.8% in the sporadic group compared to the 21.7% found in the CPFT with an Odds Ratio of 7.6. CONCLUSIONS Based on our experience, patients with CPFT present a higher frequency of multifocal neoplasia, capsular invasion, vascular invasion, lymph node invasion and recurrence than sporadic CPT. However, these differences were only significant while analyzing the vascular invasion variable. Although the results of our study have been unable to prove that the CPFT is more aggressive than sporadic CPT, we recommend performing periodic ultrasounds such as the screening of the members of the families with CPFT. Finally, we conclude that more studies are needed.

Family Home Business in Kibbutz Industry Sustainability

This study defines and examines kibbutz industries as an expanded form of family business. It explores the sociological characteristics of this new type of enterprise, extending familial business culture theory innovatively by adding a new category of business to those already described in the relevant literature. The research addressed multiple case studies, using anthropological interviews and document analysis methods to explore three new familial types: 1. Communal Familial Type, Kibbutz industries that are still communal and have retained familial attributes; 2. Business Communal Familial Type, Kibbutz industries that have undergone privatization, retaining only half the communal cultural features typical of kibbutzim and displaying greater business orientation; 3. Business Type, Kibbutz industries that have lost their familial attributes or communal cultural features. The first two types maintain kibbutz community and industrial sustainability, while the last can be a threat to kibbutz sustainability.

Interaction of α-synuclein and Parkin in iron toxicity on SH-SY5Y cells: implications in the pathogenesis of Parkinson's disease

The toxicity of accumulated α-synuclein plays a key role in the neurodegeneration of Parkinson's disease (PD). This study has demonstrated that iron in varying concentrations (up to 400 µM) causes an increase in α-synuclein content in SH-SY5Y cells associated with mitochondrial depolarization, decreased cellular ATP content and loss of cell viability during incubation up to 96 h. Knocking-down α-synuclein expression prevents cytotoxic actions of iron, which can also be prevented by cyclosporine A (a blocker of mitochondrial permeability transition pore). These results indicate that iron cytotoxicity is mediated by α-synuclein acting on mitochondria. Likewise siRNA mediated knock-down of Parkin causes an accumulation of α-synuclein accompanied by mitochondrial dysfunction and cell death during 48 h incubation under basal conditions, but these changes are not further aggravated by co-incubation with iron (400 µM). We have also analyzed mitochondrial dysfunction and cell viability in SH-SY5Y cells under double knock-down (α-synuclein and Parkin concurrently) conditions during incubation for 48 h with or without iron. Our results tend to suggest that iron inactivates Parkin in SH-SY5Y cells and thereby inhibits the proteasomal degradation of α-synuclein, and the accumulated α-synuclein causes mitochondrial dysfunction and cell death. These results have implications in the pathogenesis of sporadic PD and also familial type with Parkin mutations.

Pencegahan primer dan perilaku sehat pada setiap anggota keluarga yang tidak menderita diabetes melitus di dalam keluarga dengan diabetes melitus

The Primary prevention and healthy lifestyles among non diabetic members of familial type 2 diabeticBackground: Diabetes Mellitus (DM) is one of the diseases that tends to have the increasing rate of incidence. DM can be prevented through preventive and mitigating measures of risk factors that can cause DM, especially in someone who has a history of DM on family members.Purpose: Describing the primary prevention and healthy lifestyles among non diabetic members of familial type 2 diabetic at Public Health Centre (Puskesmas) the work area of Tarogong, west Java Indonesia.Methods: A quantitative descriptive with consecutive sampling which was conducted on 138 respondents from the population of 210 family members of patients with DM. Data collection techniques were conducted by using questionnaires to find out and measure DM prevention by healthy lifestyles. The data are grouped into categories of good and poor that were analyzed using descriptive statistics based on the mean value of the questionnaire.Results: Finding that all respondents (88.4%) was in good category in DM prevention by healthy lifestyles. While the behavior of prevention of DM seen from the diet most of the respondents are in good category (61.6%), physical activity almost entirely in good category (91.3%), weight control mostly in category poor (55.1%), smoking habit almost entirely in category (86.2%), and stress management is almost entirely in good category (87.7%).Conclusion: The small percentage of respondents are still lacking of the information about DM, thus becoming poor aware of the importance in doing DM prevention behavior by healthy lifestyles. This happens because most of the respondents have not yet received the necessary information about DM disease. Therefore, it is recommended that the Public Health Centre (Puskesmas) or other local facilities provide information about DM disease not only to the patients but also to their family members.Keywords: The Primary Prevention; Healthy Lifestyles; Type 2 DiabeticPendahuluan: Diabetes Melitus (DM) merupakan salah satu penyakit yang memiliki angka kejadian terus meningkat. DM dapat dicegah melalui tindakan pencegahan dan penanggulangan dari faktor resiko yang dapat menyebabkan DM. Resiko DM lebih besar terjadi pada anggota keluarga yang mempunyai riwayat DM.Tujuan: Mengidentifikasi gambaran perilaku pencegahan primer pada anggota keluarga dengan DM di wilayah kerja Puskesmas Tarogong.Metode: Deskriptif kuantitatif dengan menggunakan consecutive sampling yang dilakukan pada 138 responden dari jumlah populasi 210 anggota keluarga penderita DM. Teknik pengumpulan data dilakukan dengan menggunakan kuesioner untuk mengukur perilaku pencegahan DM serta data dikelompokkan ke dalam kategori baik dan buruk yang dianalisis menggunakan statistik deskriptif berdasarkan nilai mean kuesioner.Hasil: Didapatkan hampir seluruhnya responden (88.4%) berada pada kategori baik dalam perilaku pencegahan DM. Sedangkan perilaku pencegahan DM dilihat dari pola makan sebagian besar responden berada pada kategori baik (61.6%), aktivitas fisik hampir seluruhnya pada kategori baik (91.3%), pengontrolan berat badan sebagian besar pada kategori buruk (55.1%), kebiasaan pengendalikan perilaku merokok hampir seluruhnya pada kategori baik (86.2%), dan pengelolaan stres hampir seluruhnya pada kategori baik (87.7%).Simpulan: Sebagian kecil responden masih buruk dalam melakukan perilaku pencegahan DM. Hal ini terjadi karena sebagian besar responden belum semuanya mendapatkan informasi tentang penyakit DM. Disarankan agar pihak Puskesmas dapat memberikan informasi mengenai penyakit DM tidak hanya pada pasien yang menderita tetapi anggota keluarganya pun perlu diberikan.

Familial sliding hiatus hernia in four siblings with uncommon features: a case series report

This case report shows a very rare case series of one family with four children who had severe congenital sliding hiatus hernia (HH) with uncommon presentations, and they had one parent with sliding hernia and the other with reflux symptoms. It is rarely described in the literature a direct link to a familial type that might refer to a common genetic factor. Hiatus hernia is protrusion of abdominal viscera through the oesophagus opening in the diaphragm into the thoracic cavity with sliding hernia being the most common. It can be either asymptomatic or accompanied by a variety of symptoms. We present a case series of one family in which four siblings had congenital sliding diaphragmatic hernia with atypical symptoms and gastro-oesophageal reflux disease (GORD). It is a rare case that suggests a common factor that can cause such a common disease. All four had uncommon presentations which all required surgical repair. Few cases reported on the medical literature, and they were discussed and compared with our case. However, we need further studies in families that might have this phenomenon.