Search

Infantile Tremor Syndrome is a distinct clinical entity most commonly seen in Indian Subcontinent. Syndrome consists of tremors, mental and developmental retardation, abnormal skin pigmentation and anemia in children between 6 months to 2 years. The etiology is still elusive. Amongst various theories, nutritional theory is the most accepted. So far there are no cases reported of vitamin C deficiency in ITS. In this article, three cases of ITS associated with vitamin C deficiency are reported. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented about cases of ataxia telangiectasia (AT) with hepatocellular carcinoma (HCC).

This report describes the symptoms of pesticide poisoning in a previously healthy teenage girl. After consuming unwashed grapes for several days, the girl developed the following symptoms: drowsiness, vomiting, truncal weakness and fasciculations in the tongue and hands. Blood tests confirmed exposure to a small amount of the organophosphate (OP) compound, a type of chemical found in certain pesticides. The girl was treated with supportive care and cholinesterase reactivators, which minimised the damage caused by OP poisoning. Within 48 hours, the girl's symptoms improved and she made a full recovery. This case highlights that OP poisoning can present without classic cholinergic crisis symptoms (SLUDGING), including miosis. Fasciculations, as observed in this case, are a significant clue to the diagnosis., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Introduction Thalassemia is a widely prevalent monogenic hematological disorder found worldwide. It exists in two forms: alpha- and beta-thalassemia. Alterations in the hemoglobin subunit beta (HBB) gene cause beta-thalassemia, with missense and point mutations affecting beta-globin synthesis. Consequently, genetic screening for beta-thalassemia is essential for genetic counseling, carrier screening, and prenatal diagnosis. Aim and objective This study aims to examine and identify mutations in the exon 1 region of the HBB gene in beta-thalassemia patients from the Vijayapura region. Methods This study involved 47 clinically diagnosed children with beta-thalassemia from a hospital in Vijayapura, India. Detailed clinical histories of all patients were recorded. Genomic DNA was extracted from the blood samples of these patients and subjected to polymerase chain reaction (PCR) using exon-specific primers for the HBB gene. The PCR products were then sequenced using the capillary-based Sanger sequencing method to identify mutations in the HBB gene. Results A total of 47 clinically diagnosed beta-thalassemia patients were included in the study, comprising 30 males and 17 females, aged between one and 20 years. Sequencing analysis of exon 1 in the beta-globin gene identified 17 beta-thalassemia variants. The most common mutation observed was T>G, G>C, C>A, and C>T in the exon 1 region of the HBB gene.  Conclusion This study identifies the pattern of beta-thalassemia mutations, aiding in the prevention of the disorder through prenatal diagnosis and genetic counseling. Mutations can alter codon sequences, affecting protein production. Research highlights the importance of a primary prevention program to analyze mutations and sequence variations at the molecular level, thereby helping to address numerous genetic disorders., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Institutional Ethical Committee of BLDE (Deemed to be University) issued approval IEC/09/2021. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Kumar et al.)

Competing Interests: Competing interests: None declared.

Competing Interests: Competing interests: None declared.

Introduction  The most frequent etiologies of viral gastroenteritis among young children are rotavirus and enteric adenovirus. The clinical signs and symptoms of viral gastroenteritis are not distinct enough to allow for diagnosis. For the diagnosis and treatment of acute gastroenteritis, it is preferable to use quick, simple, and low-cost procedures. This study was undertaken to determine efficacy of immune-chromatography test (ICT) in comparison with enzyme-linked immunosorbent assay (ELISA) to detect rotavirus and adenovirus antigen in fecal specimen among children less than 5 years of age with acute gastroenteritis. Materials and Methods  In a cross-sectional observational study, 314 fecal samples were collected from children aged less than 5 years with acute gastroenteritis attending or admitted to a tertiary care hospital during the 1 year study period. Samples were tested for rotavirus and adenovirus antigen using ICT and ELISA. Results  Among the 314 children evaluated, 112 (35.66%) had rotavirus infection, nine (2.86%) had adenovirus infection, and three (0.95%) had both rotavirus and adenovirus infection. This study found that ICT is 98.20% sensitive and 100% specific for the diagnosis of rotaviral diarrhea and 100% sensitive and 99.7% specific for adenovirus diarrhea, compared to ELISA. Conclusion  Immunochromatography tests used for the detection of rotavirus and adenovirus in the fecal sample showed a high degree of sensitivity and specificity. The ICT is easy to perform and rapid, and it does not require any special equipment. Hence, the ICT could be used as an alternative method for detecting viral pathogens in clinical practice., Competing Interests: Conflict of Interest None declared., (The Indian Association of Laboratory Physicians. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ).)

Context Neonatal birth/perinatal asphyxia is a serious condition with the potential to cause damage to various tissues of the body especially the brain. Hypoxia can cause metabolic disturbances, which in turn can lead to imbalances in the levels of glucose, electrolytes, and calcium, which can further worsen the condition. Early detection of these biochemical derangements and immediate correction can prevent the complications and lifelong disabilities of birth asphyxia due to injury to vital organs particularly the brain. The aim is to assess any correlation between the cord blood glucose, electrolytes, and calcium levels and the severity of birth asphyxia. Methods and material In this study, 50 birth asphyxia neonates with birth weight >2.5 kg, and a 5-minute Apgar score ≤ 6 at birth with clinical evidence of asphyxia were compared with healthy neonates with birth weight > 2.5 kg, and a 5-minute Apgar score > 7. In all the cases and controls, cord blood glucose was estimated by glucose oxidase and peroxidase (GOD-POD) method, total calcium by Arsenazo method, and sodium and potassium were estimated by ion-selective Electrode (ISE) method using fully automated biochemistry analyzers. Results The mean cord blood concentrations of glucose, sodium, potassium, and calcium were significantly lower among birth asphyxia neonates in comparison with that of controls (p < 0.05). The correlation coefficient (r) for the study variables among cases indicates that there is a low to moderate positive correlation between the 5-minute Apgar score which is a measure of severity of birth asphyxia and cord blood concentrations of glucose, sodium, and calcium. Conclusion In our study, birth asphyxiated neonates were found to have statistically significant low levels of cord blood glucose and electrolytes like sodium and calcium except for potassium. There was a low to moderate positive correlation between cord blood glucose and electrolyte concentrations with the severity of birth asphyxia. Analysis of cord blood for these simple biochemical tests can help pediatricians in the active management of birth asphyxia cases., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Pyati et al.)

Controlled ovarian stimulation has been an integral part of in vitro fertilisation (IVF) treatment cycles. Availability of different gonadotropins for ovarian stimulation and gonadotropin releasing hormone (GnRH) analogues for prevention of premature rise of leutinising hormone during follicular phase offer an opportunity to utilise them for a successful outcome in women with different subsets of ovarian response. Further, use of GnRH agonist as an alternative for human chorionic gonadotropin improves safety of ovarian stimulation in hyper-responders. Mild ovarian stimulation protocols have emerged as an alternative to conventional protocols in the recent years. Individualisation plays an important role in improving safety of IVF in hyper-responders while efforts continue to improve efficacy in poor responders. Some of the follicular and peri-ovulatory phase interventions may be associated with negative impact on the luteal phase and segmentalisation of the treatment with frozen embryo transfer may be an effective strategy in such a clinical scenario. This narrative review looks at the available evidence on various aspects of ovarian stimulation strategies and their consequences. In addition, it provides a concise summary of the evidence that has emerged from India on various aspects of ovarian stimulation., Competing Interests: Ferring organised a meeting of all authors and facilitated discussion and provided the assistance of a medical writing team whose role was limited to aiding the search strategy and creating the flow chart for search strategy. PRJ: Is the current Editor-in-Chief of the Journal of Human Reproductive Sciences. She has not received any monetary compensation for the article. She has been a faculty for symposiums organised by Ferring in the past. She has not had any role in the peer review/editorial process/decision making about the manuscript. NM: Has not received any monetary compensation for the article. She has received honorarium as a faculty from Ferring in the past. JS: He has not received any monetary support from Ferring for the writing up of this manuscript. MMP: Has been a part of Ferring C-Create programs and was invited to speak for Abbott scientific sessions. She has not received any monetary support from Ferring for the writing up of this manuscript. RG: Has been compensated by Ferring India, Merck and Abott India in the last year for various speaker/KOL assignments. He has not received any monetary support from Ferring for the writing up of this manuscript. VSR: She has received honorarium from Ferring Pharmaceutical Pvt Ltd as an expert in Embryology towards preparing/updating & being a member of Virtual ‘C-CREATE Scientific Committee meeting, but not received any funds for this particular project. MG: Never received any monetary support or honorarium from Ferring for writing up this Manuscript. Has been part of Ferring's C-Create teaching programs and part of invited faculty in educational programs conducted by Abbott, Astra Zeneca and Shield Pharma companies. FIS: Has received compensation from Ferring (but not for this article) as part of Ferring Speaker Bureau and investigator., (Copyright: © 2022 Journal of Human Reproductive Sciences.)

Chronic shoulder pain is a complex and multidimensional phenomenon with multiple causative factors involved in its perpetuation. Alteration of central nervous system processing along with the central sensitization is a predominant feature in chronic pain. Reduction in physical function has an impact on the psychological well-being of an individual. The aim of the study was to compare pain, kinesiophobia, catastrophizing, disability and quality of life in chronic shoulder pain patients with and without central sensitization. Eighty chronic unilateral shoulder pain patients in the age group of 40 to 60 years were recruited. Of them, 38 were chronic shoulder pain with central sensitization and 42 without central sensitization, classified on the basis of central sensitization inventory. Pain catastrophizing was measured using the pain catastrophizing scale, kinesiophobia using Tampa scale of kinesiophobia, disability using Shoulder pain and disability index and quality of life using 36-Item Short Form Health Survey questionnaire was evaluated in both the groups. Increased pain catastrophizing (p=0.000), kinesiophobia (p=0.000) and disability (p=0.000) was observed in centrally sensitized chronic shoulder pain patients. Also, physical component summary (p=0.000) and mental component summary (p=0.000) of SF-36 quality of life were reduced in chronic shoulder pain with central sensitization as compared to without central sensitization. Hence, these components should be included during assessment which will provide a holistic and multimodal approach towards the understanding, planning and management of chronic shoulder pain patients., Competing Interests: Conflict of interests: The authors declare no conflict of interests. Acknowledgments: The authors would like to thank all the participants in the study., (©Copyright: the Author(s).)

Both chronic kidney disease (CKD) and hypothyroidism are associated with decreased serum irisin level. The presence of hypothyroidism may influence serum irisin level in CKD patients. The objective of this study was to evaluate the effect of hypothyroidism on serum irisin level in patients with nondiabetic CKD. Two hundred nondiabetic CKD patients aged between 18 and 65 years with glomerular filtration rate <60 mL/min/1.73 m 2 were included in this study. Forty-three (21.5%) patients had hypothyroidism (overt and subclinical both). Forty hypothyroid and forty euthyroid CKD patients matched for age and Body Mass Index underwent body composition, biochemical [fasting plasma glucose (FPG) and C-reactive protein], and hormonal (fasting irisin and insulin) evaluation. Body composition analysis including visceral adipose tissue was done by dual-energy X-ray absorptiometry. Homeostatic model assessment 2 insulin resistance was calculated from FPG and insulin levels. The median serum irisin levels were not significantly different between hypothyroid and euthyroid CKD patients [95 (47.74-261.52) vs. 66 (28.25-224.50) ng/mL, P = 0.30]. There was also no difference in renal function, body composition and other metabolic parameters between the two groups. To conclude, the presence of hypothyroidism does not alter serum irisin level in patients with nondiabetic CKD., Competing Interests: None declared

Competing Interests: There are no conflicts of interest.

Ingestion of whole seeds of Abrus precatorius often does not produce serious illness. It generally presents initially with gastrointestinal manifestations. Haemolysis, acute renal damage, hepatotoxicity and seizures are the other manifestations. Herewith we report a child with accidental ingestion of abrus precatorius seeds who presented with altered sensorium and convulsions. The case is being reported on account of its rarity in its initial neurological manifestation and has not been reported earlier in paediatric age group.

Anticonvulsants have the broad spectrum of side effects on the bone that are collectively known as osteopathy. Anticonvulsant induced osteopathy can have detrimental consequences. We present an unusual case that uniquely highlights both adverse effects of phenytoin on bone metabolism and side effects of its overtreatment. A 29-year-old lady came for evaluation of metabolic bone disease. Since last one year, she had severe bilateral hip pain resulting in restriction of movements. She was taking phenytoin 300 mg daily for last ten years for a seizure disorder. During evaluation at another center, she was diagnosed to have vitamin D deficiency, osteomalacia and secondary hyperparathyroidism. She received recombinant parathormone, high doses of vitamin D along with phenytoin. She presented at our centre with persistent pain and hypervitaminosis D. We stopped recombinant PTH, vitamin D and changed phenytoin to levetiracetam. Her condition improved over next six months with normalization of vitamin D. Thus, patients on phenytoin should be actively screened for side effects and the appropriate preventive and correctional measures should be undertaken. While managing these side effects overtreatment should be avoided.

Posterior reversible encephalopathy syndrome (PRES) is a rare acute neurologic condition, characterized by acute neurological symptoms. The radiological findings are predominantly seen in the posterior cerebral hemispheres and are reversible with appropriate management. We are reporting a case of a 21-year-old woman (primigravida), who presented with loss of vision, head ache and vomiting on 2nd day of post-caesarean section. Caesarean section was done due to fetal distress. On examination, patient appeared drowsy but arousable, had a blood pressure of 140/114 mmHg, rest of the examination was unremarkable. CT and MRI brain was performed to rule out cerebral venous sinus thrombosis and cortical blindness; imaging and clinical findings were suggestive of posterior reversible encephalopathy syndrome (PRES). She was treated successfully with antihypertensives and showed dramatic improvement.

Need: Despite availability of intensive care units and improved antenatal care, some women still die from Eclampsia. Eclampsia is associated with increased risk of maternal death varying from 1.8 % in developed countries to 14 % in developing countries. Cerebral complications are the major cause of death in eclampsia patients. Eclampsia along with hypercoagulopathy of pregnancy is a high risk fact for patient in respect of development of cerebrovascular thrombosis/ischemic strokes. Eclampsia patients who are refractory to the routine treatment have been found to have various CNS pathological conditions amenable to the medical treatment., Aims and Objectives: (1) To study the neuropathophysiology behind an eclamptic seizure to reduce the morbidity associated with it. (2) To study the role of neuroimaging in patients with atypical eclampsia., Methodology: Prospective study design included 30 patients for the study. All patients were admitted in the eclampsia room with h/o convulsions. All patients were put on MgSO4 therapy and antihypertensives. The patients who are refractory to the treatment such as having recurrent convulsions despite therapy MgSO4 were selected for neuroimaging with CT scan. Neuroimaging is done using Phillips Tomoscan CT scanner where slices of 10-mm thickness were taken through the entire brain in the transaxial plane. Abdomen shielding is done with lead shield to prevent radiation hazard., Result: [Table: see text]., Conclusion: Eclampsia patients who were refractory to the treatment with MgSO4 and antihypertensives have been found to have very significant and morbid CNS pathological conditions. Neuroimaging in these patients have done a pivotal role in identifying the abnormality and rectifying it with medical means which had definitely improved patient's condition and have reduced morbidity.

We report a 3-year old boy with acute onset of left sided facial palsy secondary to tick infestation in the left ear. On 7th day of follow-up, following tick removal, the facial palsy had resolved.

Modulation of inhibitory synaptic potentials in the piriform cortex. Intracellular recordings from pyramidal neurons in brain slice preparations of the piriform cortex were used to test results from a computational model about the effects of cholinergic agonists on inhibitory synaptic potentials induced by stimulation of afferent fibers in layer Ia and association/intrinsic fibers in layer Ib. A simple model of piriform cortex as an associative memory was used to analyze how suppression of inhibitory synaptic transmission influenced performance of the network. Levels of suppression of excitatory synaptic transmission were set at levels determined in previous experimental work. Levels of suppression of inhibitory synaptic transmission were then systematically varied within the model. This modeling work demonstrated that suppression of inhibitory synaptic transmission in layer Ib should be stronger than suppression of inhibitory synaptic transmission in layer Ia to keep activity levels high enough for effective storage. Experimental data showed that perfusion of the cholinergic agonist carbachol caused a significant suppression of inhibitory postsynaptic potentials (IPSPs) in the pyramidal neurons that were induced by stimulation of layer Ib, with a weaker effect on IPSPs induced by stimulation of layer Ia. As previously described, carbachol also selectively suppressed excitatory postsynaptic potentials (EPSPs) elicited by intrinsic but not afferent fiber stimulation. The decrease in amplitude of IPSPs induced by layer Ib stimulation did not appear to be directly related to the decrease in EPSP amplitude induced by layer Ib stimulation. The stimulation necessary to induce neuronal firing with layer Ia stimulation was reduced in the presence of carbachol, whereas that necessary to induce neuronal firing with layer Ib stimulation was increased, despite the depolarization of resting membrane potential. Thus physiological data on cholinergic modulation of inhibitory synaptic potentials in the piriform cortex is compatible with the functional requirements determined from computational models of piriform cortex associative memory function.

Pyramidal cells in piriform (olfactory) cortex receive afferent input from the olfactory bulb as well as intrinsic association input from piriform cortex and other cortical areas. These two functionally distinct inputs terminate on adjacent apical dendritic segments of the pyramidal cells located in layer Ia and layer Ib of piriform cortex. Studies with bath-applied cholinergic agonists have shown suppression of the fast component of the inhibitory postsynaptic potentials (IPSPs) evoked by stimulation of the association fibers. It was previously demonstrated that an associative form of LTP can be induced by coactivation of the two fiber systems after blockade of the fast, gamma-aminobutyric acid-A-mediated IPSP. In this report, we demonstrate that an associative form of long-term potentiation can be induced by coactivation of afferent and intrinsic fibers in the presence of the cholinergic agonist carbachol.