Clinical and Morphological Manifestations of Gastritis and Serum Cytokine Levels in Schoolchildren with Familial History of Gastric Cancer

Aim. A study of the clinical and morphological traits and cytokine profile of gastritis in schoolchildren with familial history of gastric cancer.Materials and methods. A cross-sectional questionnaire survey was conducted in Siberian regions (Tuva, Even-kiya, Aginskiy Buryat National District, Krasnoyarsk). A total of 3,343 schoolchildren aged 7–17 were surveyed for gastrointestinal complaints and history of gastric cancer in their 1st–2nd degree kindred. Oesophagogastroduo-denoscopy (OGDS) with gastric mucosa biopsy were performed in 463 respondents with complaints. Gastritis was graded in the Sydney classification. Serum cytokine levels (IL-2, IL-4, IL-8, IL-18, IL-1β, IFN-α, TNM-α) were obtained in enzyme immunoassays (ELISA).Results. Schoolchildren with gastritis and familial history of gastric cancer revealed a higher 59.8% rate of dyspeptic complaints vs. 40.8% in negative history (p = 0.001), as well as complaints of weekly heartburn in 14.2 and 8.3% cas-es (p = 0.019), respectively. In positive history and negative H. pylori tests, the cell immune response regulator IL-18 37 was revealed elevated in histology. In histologically verified H. pylori, no cross-cohort differences were observed in serum IL-18 by positive familial history of gastric cancer.Conclusion. Gastritis in schoolchildren with familial predisposition to gastric cancer more often associates with GERD and dyspepsia usually presented in postprandial distress syndrome. The cytokine regulation properties of gastritis in schoolchildren with familial history of gastric cancer have been reported.

Is there a familial predisposition to bisphosphonate-induced atypical femoral fractures?

Bisphosphonates are commonly used in the treatment of osteoporosis. Atypical femoral fracture (AFF) is a well-known adverse effect of bisphosphonate use. The importance of genetic factors has been demonstrated in bone quality, bone turnover, and in the response to osteoporosis treatment. Herein, we present two cases of bilateral AFFs after bisphosphonate use for a short period of time in members of the same family (mother and her daughter) and discuss genetic predisposition to bisphosphonate-induced AFFs in the light of literature data.

Hand and Upper Limb Malformations in Italy: A Multicentric Study

Background: Although hand and upper limb malformations are quite frequent, up to now very few reports have been published on epidemiology. The aim of this study is to evaluate the number of infants who presented with hand and upper limb malformations from 2010 to 2015 in Italy. Methods: A retrospective analysis of a pediatric population presenting with hand and upper extremity malformations was carried out, gathering reports achieved from eight Italian Centers of pediatric hand surgery. Other factors such as gender, date and region of birth, family distribution of malformations and associated syndromes, were analysed. Results: Out of 3,100,421 live births, 765 children presented with hand and upper limb malformations. The incidence was 2,5/10,000 live births with a predominance of males and the right side. Radial polydactyly was the anomaly with the highest percentage, closely followed by simple syndactyly, simbrachidactyly and complex syndactyly. Less common conditions were the triphalangic thumb, thumb in palm, proximal radioulnar synostosis and Sprengel deformity. Inheritance of and familial predisposition to those malformations was recorded in 25 cases, while 84 children presented with syndromes related to hand anomalies. Conclusions: In conclusion the incidence of hand and upper extremity malformations in Italy is lower than that registered in other countries. The retrospective nature of the study combined with the fact that some defects frequently evade pediatric hand surgeon consultations are some possible limitations of the study. However, our data confirmed that, in spite of the decrease in the birth rate in Italy, the trend of congenital hand disorders maintained a stable trend. We aim to integrate this study with a prospective analysis and to involve the institutional health authorities in other countries so as to register the correct incidence of hand and upper extremity defects.

Sydenham’s chorea in Sudan

Background: Sydenham’s chorea (SC), is the most common form of acquired chorea in childhood, it is considered as neurological complication of streptococcal pharyngitis. Our aim was to determine the clinical pattern, association of Sydenham’s chorea with other manifestation of ARF and the laboratory findings of Sydenham’s chorea among Sudanese patients.Methods: This study is descriptive , retrospective cross- sectional study. Fifty patients with different age groups, were diagnosed as having Sydenham’s chorea & followed up at The National center for Neurological sciences, in the period (Jan2017 to Nov2019). Data were obtained after patients consent of by personal interview or personal review of patients records through a designed questionnaire including demographic data, symptoms, co morbid illness, risk factors, physical examination and related investigations.Results: The patients’ median age was 13.7 years: 88% of the cases occurred between 7-17 years with female predominance(35) . Generalized chorea was seen in 33 (66%) and hemichorea 17 (34%) patients. weakness and hypotonia were common, behavior change (44%), dysarthria (71%), gait change(17.20%)and deterioration of handwriting (13%) Arthritis occurred in (36%), carditis 30 (60%), arthritis and carditis in 18(36%), and pure chorea 14 (28%). Erythema marginatum and subcutaneous nodules were not observed in our patients. Only13 patients (26%) gave a history of pharyngitis.Conclusion : There were clear evidence of familial predisposition. Sydenham’ chorea commonly presents acutely in majority of patients. Chorea firstly appeared with oro-fascial movement followed by limb involvement. Minority of patients gave a history of pharyngitis. Brain imaging was normal.

Association of Poland Syndrome and hypertrichosis in pubertal girl - Case report

Poland syndrome (PS) is a rare congenital malformation, most commonly characterized by absence of chest wall muscles on one side of the body. It may be accompanied with other deformities of the extremities. We present the case of a 10-year-old girl with Poland syndrome and hypertrichosis of the back of the trunk and extremities. The clinical examination did not reveal the etiology of the syndrome, such as familial predisposition or some event that led to interrupted blood flow during the early embionic growth. The pregnancy was concieved with in vitro fertilization (IVF); triplets were born and our patient is one of these three girls. The hypertrychosis appeared at 8 years of life, without evidence of previous familial occurance, medications or hormonal disbalance. Other malformations that were found were: a mild form of kyphoscoliosis and mitral valve prolapse. The child was evaluated using a multidisciplinary approach, with further follow-up planned with surgical correction of the chest wall and breast augmentation.

Familial Risk and Heritability of Hematologic Malignancies in the Nordic Twin Study of Cancer

We aimed to explore the genetic and environmental contributions to variation in the risk of hematologic malignancies and characterize familial dependence within and across hematologic malignancies. The study base included 316,397 individual twins from the Nordic Twin Study of Cancer with a median of 41 years of follow-up: 88,618 (28%) of the twins were monozygotic, and 3459 hematologic malignancies were reported. We estimated the cumulative incidence by age, familial risk, and genetic and environmental variance components of hematologic malignancies accounting for competing risk of death. The lifetime risk of any hematologic malignancy was 2.5% (95% CI 2.4–2.6%), as in the background population. This risk was elevated to 4.5% (95% CI 3.1–6.5%) conditional on hematologic malignancy in a dizygotic co-twin and was even greater at 7.6% (95% CI 4.8–11.8%) if a monozygotic co-twin had a hematologic malignancy. Heritability of the liability to develop any hematologic malignancy was 24% (95% CI 14–33%). This estimate decreased across age, from approximately 55% at age 40 to about 20–25% after age 55, when it seems to stabilize. In this largest ever studied twin cohort with the longest follow-up, we found evidence for familial risk of hematologic malignancies. The discovery of decreasing familial predisposition with increasing age underscores the importance of cancer surveillance in families with hematological malignancies.