Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion
Int J Hematol. 2024 Apr 16. doi: 10.1007/s12185-024-03768-2. Online ahead of print.ABSTRACTBernard-Soulier syndrome (BSS) is caused by defects in GP1BA, GP1BB, or GP9 genes. Patients with 22q11.2 deletion syndrome (22q11.2DS) are obligate carriers of BSS because GP1BB resides on chromosome 22q11.2. A 15-month-old girl without bleeding symptoms had giant platelets and thrombocytopenia. Physical findings and macrothrombocytopenia suggested 22q11.2DS, which was confirmed by fluorescence in situ hybridization. Flow cytometry showed decreased GPIbα on the platelets. Gene panel testing revealed a novel variant in GP1BB, p.(Val1...
Source: International Journal of Hematology - April 16, 2024 Category: Hematology Authors: Rintaro Nagoshi Atsushi Sakamoto Tsuyoshi Imai Toru Uchiyama Tadashi Kaname Shinji Kunishima Akira Ishiguro Source Type: research
Associations between receiving non-consensual image and video sexts and average sleep duration among adolescents and young adults
This study found that receiving non-consensual sexts was associated with lower sleep duration among girls and young women, underscoring the needs for greater awareness of this behaviour among health and mental health professionals. (Source: Sexual Health)
Source: Sexual Health - April 16, 2024 Category: Sexual Medicine Authors: Kyle T. Ganson Carolyn O & #x2019;Connor Jason M. Nagata Alexander Testa Dylan B. Jackson Nelson Pang Faye Mishna Source Type: research
Acute compartment syndrome and fasciotomy after a viper bite in Italy: a case report
ConclusionsThis case highlights the importance of obtaining a timely assessment of the severity of viper envenomation without delaying the administration of antivenom in most serious cases. The presence of multiple bite marks on the patient is one factor that may help to predict the clinical severity of snakebites and anticipate symptom progression. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 16, 2024 Category: Pediatrics Source Type: research
A case of congenital hyperinsulinism presenting with diabetes after long-term diazoxide therapy
AbstractCongenital hyperinsulinism (CHI) is the most common form of persistent hypoglycemia in infants, and diazoxide is the most widely used drug for its treatment. Diazoxide suppresses insulin secretion and attenuates hypoglycemia by binding to sulfonylurea receptor 1 and activating KATP channels. While the short-term side effects of this drug, such as edema and blood cell abnormalities, are well known, the clinical course after its long-term oral administration remains unclear. Furthermore, there are currently no case reports clearly demonstrating a causal relationship between diazoxide and impaired glucose tolerance. W...
Source: Diabetology International - April 16, 2024 Category: Endocrinology Source Type: research
HPV Vaccine Issues in Japan: A review of our attempts to promote the HPV vaccine and to provide effective evaluation of the problem through social-medical and behavioral-economic perspectives
Vaccine. 2024 Apr 13:S0264-410X(24)00407-9. doi: 10.1016/j.vaccine.2024.03.080. Online ahead of print.ABSTRACTIn Japan, subsidies from local and national government programs for HPV vaccination of girls aged 13-16 began in 2010. By 2013, HPV vaccines were being used routinely for vaccinating girls aged 12-16 as part of its national immunization program. However, in June of 2013, in response to reports of possible adverse reactions to the vaccine, Japan's Ministry of Health, Labor, and Welfare (MHLW) announced a 'temporary suspension' of its governmental recommendation for HPV vaccination. The vaccination rate quickly dropp...
Source: Vaccine - April 15, 2024 Category: Allergy & Immunology Authors: Asami Yagi Yutaka Ueda Tadashi Kimura Source Type: research
HPV Vaccine Issues in Japan: A review of our attempts to promote the HPV vaccine and to provide effective evaluation of the problem through social-medical and behavioral-economic perspectives
Vaccine. 2024 Apr 13:S0264-410X(24)00407-9. doi: 10.1016/j.vaccine.2024.03.080. Online ahead of print.ABSTRACTIn Japan, subsidies from local and national government programs for HPV vaccination of girls aged 13-16 began in 2010. By 2013, HPV vaccines were being used routinely for vaccinating girls aged 12-16 as part of its national immunization program. However, in June of 2013, in response to reports of possible adverse reactions to the vaccine, Japan's Ministry of Health, Labor, and Welfare (MHLW) announced a 'temporary suspension' of its governmental recommendation for HPV vaccination. The vaccination rate quickly dropp...
Source: Vaccine - April 15, 2024 Category: Allergy & Immunology Authors: Asami Yagi Yutaka Ueda Tadashi Kimura Source Type: research
Female genital mutilation: trends, economic burden of delay and basis for public health interventions
The practice of female genital mutilation (FGM) is a health and social problem. Millions of girls and women have undergone FGM or will soon, and more information is needed to effectively reduce the practice. T... (Source: International Journal for Equity in Health)
Source: International Journal for Equity in Health - April 15, 2024 Category: International Medicine & Public Health Authors: Kathya Cordova-Pozo, Hisham Hussein Imam Abdalla and Ann-Beth Moller Tags: Research Source Type: research
Heightened neural reward responsiveness functions as a plasticity factor moderating the association between childhood emotional abuse and young adult depressive symptoms: Evidence of differential susceptibility.
Journal of Psychopathology and Clinical Science, Vol 133(3), Apr 2024, 245-256; doi:10.1037/abn0000911As a neural indicator of reward responsiveness (RR), reward positivity (RewP) has been demonstrated to moderate the association between stress exposure and depressive symptoms. However, extant research has primarily (a) focused on life stress rather than early maltreatment, (b) ignored the time-frequency components, and (c) has been based on a traditional perspective of diathesis stress. The present study aimed to comprehensively examine whether and how neurophysiological (RewP and its time–frequency decomposition compon...
Source: Journal of Abnormal Psychology - April 15, 2024 Category: Psychiatry & Psychology Source Type: research
Monitoring the utilization and effectiveness of Iron and Vitamin D supplementations program and its predictive factors in high schools ’ girls in Qom, Iran
Conclusion:The inadequate and incomplete rate of IVDSP in Qom was high and more than 60% of distributed supplementations have been wasted. Our results showed that students who were participated in educational orientation classes were more successful and eager in iron and vitamin D3 consumption. Therefore, it is recommended to increase interventions at individual, interpersonal, intra-organizational and inter-organizational levels in order to fully support the program and ultimately increase the efficiency of the program. (Source: Journal of Preventive Medicine and Hygiene)
Source: Journal of Preventive Medicine and Hygiene - April 15, 2024 Category: International Medicine & Public Health Authors: Abolfazl Mohammadbeigi, Dr Source Type: research
There is a correlation between nutritional status, Self-Rated Health and Life Satisfaction? Evidence from 2018 Health Behaviour in School-aged Children cross sectional study in a sample of Italian Adolescents living in Tuscany Region
Conclusions: Viewing the psychosocial problems related to overweight, more attention and care must be placed on adolescents to ensure their healthier development (Source: Journal of Preventive Medicine and Hygiene)
Source: Journal of Preventive Medicine and Hygiene - April 15, 2024 Category: International Medicine & Public Health Authors: Claudia Trombetta, Dario Lipari, Andrea Pammolli, Luigi Zagra, Ilaria Manini, Veronica Meoni, Rita Simi, Tommaso Galeotti, Giacomo Lazzeri Source Type: research
Assessment of Heart Rate Variability in Children with Mitral Valve Prolapse
ConclusionImpaired HRV associated with MVP could be age, gender, and symptom related. In addition, low LF may indicate impaired baroreflex sensitivity in MVP patients. (Source: Mammalian Genome)
Source: Mammalian Genome - April 15, 2024 Category: Genetics & Stem Cells Source Type: research
Hemangioblastoma: An Uncommon Cause of Polycythemia in a Child
We report a 13-year-old girl with primarily neurological symptoms identified to be polycythemic during routine evaluation. Clinical examination and neuroimaging subsequently confirmed an intracranial space occupying lesion which was excised. Hemoglobin level normalized after tumor excision. This case report emphasizes the need for thorough systemic evaluation including central nervous system examination in children identified to be polycythemic. Keywords: CNS tumor; hemangioblastoma; polycythemia.PMID:38615229 | DOI:10.33314/jnhrc.v21i3.4160 (Source: Cell Research)
Source: Cell Research - April 14, 2024 Category: Cytology Authors: Surabhi Aryal Arun Kumar Sharma Source Type: research
Evaluation of apparently healthy Egyptian infants and toddlers on the bayley-III scales according to age and sex
ConclusionThe study indicates that the performance of apparently healthy Egyptian children on the Bayley III evaluation differs in relation to age and sex. The most vulnerable age group at potential risk of DD was children aged 24 –30 months. Efforts must be directed to investigate the nutritional, physical, psychological and safety needs of this group. Attention must be paid to early childhood intervention programs that stimulate development, especially language development, and they must be tailored on the basis of age an d gender. Gender-specific norms may be needed in the evaluation of language development. (Source: ...
Source: Italian Journal of Pediatrics - April 14, 2024 Category: Pediatrics Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
