Hand Abnormalities Research Articles

Sonographic assessment of hand and wrist tendons abnormalities

BackgroundTendons of the hand and wrist are the seat of different types of pathologies that might be attributed to degenerative changes, inflammation, or even rupture. All of which can significantly impair hand functions and hence, the quality of life. Ultrasound can help diagnose a wide spectrum of tendon abnormalities and direct the surgical management in operable cases saving time and effort. The aim of this work was to evaluate the role of ultrasound in the assessment of different tendon pathologies in the hand and wrist and correlate imaging findings with clinical and operative data (in operable cases).MethodsThe study was conducted on 33 patients who presented with different tendon pathologies. After thorough history taking and clinical examination, US examinations were performed to both the affected and healthy hands. Continuity of the tendon, possible cause of restricted mobility, swellings as well as presence or absence of adhesions, tears, or associated vascular injury or retained foreign bodies were assessed. In operable cases, the surgery team provided feedback regarding the operative findings to correlate them with the US findings.ResultsThe study included 33 patients; 20 males and 13 females, the majority of hand or wrist tendon abnormalities were encountered due to trauma, In this study flexor tendons were the most affected at 84.8% and 15.2% for extensors. US was used to diagnose trigger finger in 20.7%, adhesions at 6.9% of cases, tendon tears in 63.6% of study population. In flexor tendon tears, ultrasound and surgery findings were consistent with regard to the gap distance regarding in both the Flexor digitorum profundus and Flexor digitorum superficialis (FDS and FDP); with strong positive correlation between them (r = 0.995, and 0.959 respectively).ConclusionUltrasound serves as an excellent diagnostic modality for assessment and management of various hand and wrist tendon abnormalities. It can pinpoint the exact site and nature of tendinopathy. This can guide clinicians in the management plan.

Real world analysis of the efficacy and safety of eribulin compared to utidelone in combination with capecitabine for the treatment of metastatic breast cancer

BackgroundThe objective of this study was to compare the efficacy and safety of subsequent chemotherapy with single eribulin or utidelone combined with a capecitabine regimen in patients with advanced breast cancer who had previously been treated with anthracyclines and paclitaxel.MethodsThis work was a retrospective analysis of 85 patients from July 2018 to July 2023. Forty-two and 43 patients were treated with the eribulin regimen and the utidelone/capecitabine regimen, respectively. The endpoints included progression-free survival, overall survival, the objective remission rate and safety. Survival analyses and multifactorial analyses were performed via the Kaplan‒Meier method, log-rank test and Cox regression models.ResultsAs of 15 April 2024, the mPFS durations of the patients in the utidelone/capecitabine and eribulin treatment groups were 7.7 and 5.2 months, respectively, and the mOS durations were 22.0 and 18.2 months, respectively. Subgroup analyses revealed that in advanced first-line therapy, the mPFS durations of the utidelone/capecitabine group and the eribulin group were 11.8 and 7.0 months, respectively, and this difference was significant. In the eribulin treatment arm, the mPFS of first-line therapy was 7.0, whereas it was 3.3 months for posterior-line therapy, and this difference was significant. The most common adverse reactions were neurotoxicity, hand‒foot syndrome, hematological toxicity, gastrointestinal toxicity, and abnormalities in hepatic and renal functions.ConclusionsIn conclusion, either utidelone/capecitabine or eribulin chemotherapy may result in a survival benefit with a tolerable adverse effect profile and favorable safety profile in patients with metastatic breast cancer. The first-line use of eribulin resulted in better PFS and ORR than posterior-line use, and the combination of utidelone/capecitabine represents a more efficacious approach in the advanced first-line therapy of breast cancer.

The Relationship Between Hand Abnormalities and Diabetic Retinopathy in Patients with Type 2 Diabetes Mellitus.

Background: The link between diabetes mellitus (DM) and pathological conditions of the hand has been previously investigated. Retinopathy is one of the most common microvascular complications of DM. In this study, we aimed to evaluate the relationship between hand abnormalities and retinopathy in patients with type 2 DM. Methods: Patients with type 2 DM were assessed for hand abnormalities using tactile, functional, and sensory tests. The patients were evaluated electrodiagnostically for carpal tunnel syndrome and polyneuropathy (PNP). A comprehensive ophthalmologic examination was performed to diagnose diabetic retinopathy (DR). Subjective disability and quality of life were evaluated using the Quick DASH questionnaire. The duration of the disease and HbA1c levels were noted. Results: A total of 60 patients with type 2 DM (32 female, 28 male) were recruited for this study. The mean age was 55.1 ± 5.6 years. Among the 60 diabetic patients examined, 15 (25%) were diagnosed with DR. The mean duration of DM was 86.86 ± 51.69 months in patients without DR and 144.75 ± 82.96 months in patients with DR. The mean HbA1c level was 8.86% in the DR group and 8.64% in the non-DR group. PNP was the only hand abnormality that showed a significant association with retinopathy (p = 0.011). Conclusions: PNP might be used as a clue to the presence of retinopathy, especially in long-lasting diabetes. Particular attention should be given to hand abnormalities, especially in patients with PNP, due to their association with DR.

РЕАБИЛИТАЦИОННАЯ РОЛЬ ПАТОЛОГИЧЕСКИХ РЕФЛЕКСОВ

In most post-stroke patients, an increase in muscle tone on the hemiplegic side is accompanied by a revival of tendon reflexes and an expansion of their reflexogenic zone, as well as the appearance of specific abnormal reflexes. All these signs have long been considered when diagnosing damage to the pyramidal system in diseases of the spinal cord and brain, but their rehabilitation significance has not yet been considered. Based on literature data, the clinical and neurophysiological characteristics of known abnormal reflexes were assessed. It is concluded that it is possible to use lively tendon reflexes, as well as tonic reflexes of the foot and hand (Babinsky and its analogues, Mayer's, Klippel – Feil, Larry`s reflexes) in rehabilitation practice. The role of phasic abnormal hand and foot reflexes (Rossolimo's sign and its analogues) in the rehabilitation process is considered insignificant due to their short duration.

Diagnostic Enigma in a rare Case of Primary Neuritic Leprosy

Leprosy is one of the most prevalent diseases affecting peripheral nerves. Pure neuritic leprosy accounts for 4-10% of all leprosy cases, with clinical symptoms restricted to the peripheral nerves and no skin abnormalities. Leprosy is diagnosed based on the skin and nerves' typical clinical and histological involvement.The absence of typical dermatological characteristics significantly reduces clinical diagnosis accuracy, necessitating histological confirmation. We presented the case of a 26-year-old male with an 8-year history of growing numbness in his right leg, recurrent ulcers in his right foot, and hand abnormalities. The patient was subsequently identified with pure neural leprosy (PNL), a kind of leprosy that affects peripheral nerves but lacks conventional skin lesions. As a result, in leprosy-endemic countries such as Bangladesh, this kind of leprosy should be extensively explored, especially in patients with no skin abnormalities. Bangladesh J Medicine 2024; 35: 214-217

Electric Wheelchair Manufacturing Analysis For Physical Disabilities Reviewed from the Aspect of Ergonomics

The high rate of physical disability is a trigger and spur in the development of research/research for people with disabilities to help with their daily activities, one of which is with a wheelchair. There is a sense of concern to see manual wheelchairs used daily by people with physical disabilities, especially with their abnormal hands and feet, so it becomes a problem in itself because they are quite tricky and tired of pedaling a manual wheelchair. This condition impacts their work productivity, thereby reducing their income/economy. Therefore, the purpose of this research is to manufacture electric wheelchairs belonging to two people with physical disabilities (i.e., belonging to Bagus and Huda). The ergonomics tests are carried out, including (a) Compatibility of the anthropometry of the user's body and the dimensions of the wheelchair, (b) Results of the user's postural analysis with RULA (Rapid Upper Limb Assessment) (c) Conformity of the dimensions of the wheelchair with the standard, and (d) Evaluation of the usability of the wheelchair based on observation. The results obtained for the Bagus electric wheelchair are from the anthropometric side. The popliteal height is longer than the distance between the seat and the footrest in the wheelchair. For Bagus to be more comfortable in using his wheelchair and for his legs not to be crooked (which will potentially cause more excellent musculoskeletal disorders), it is recommended that the distance between the seat and the footrest be extended. As for Huda electric wheelchairs, in general, they have been modified to adjust to the needs and conditions of Huda's body and make the design of Huda wheelchairs more ergonomic. However, the postural analysis showed that the forearm position was raised, and the hand was twisted when Huda operated the electric wheelchair controller. It is, therefore, recommended to lower the position of the controller in line with the wheelchair mount.

Contemporary Management of the Upper Limb in Apert Syndrome: A Review.

Apert syndrome is a relatively rare genetic disorder with a constellation of distinct craniofacial deformities and bilateral syndactyly of the hands and feet. Although the literature contains ample evidence for the need to treat cranial, midfacial, and hand abnormalities, there are severe shortcomings in the literature when attempting to describe the pathology and management of the entire upper limb in patients with Apert syndrome. A thorough literature search was performed using PubMed, Scopus, Web of Science, and Google Scholar, on the management of the upper extremity in Apert syndrome, including the shoulder, elbow, and hand. Our findings of the literature discuss the clinical presentation and management trends of the upper extremity in patients with Apert syndrome. Through multicenter collaboration, discussion among experts in the field, and evidence gathered from the literature, we propose treatment algorithms to treat deformities of the hand, shoulder, and elbow in patients with Apert syndrome. This review identifies that even if hand pathologies have been correctly treated, shoulder and elbow abnormalities in patients with Apert syndrome are largely ignored. To optimize outcomes, added cognizance of additional upper limb congenital differences and their management should be highly advocated in this patient population.

Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials.

Measurement of muscle strength and motor function is recommended in clinical trials of neuromuscular diseases, but the loss of hand strength at which motor function is impacted is not documented. To establish the relationship between hand strength and function, and to determine the strength threshold that differentiates normal and abnormal hand function in individuals with Duchenne Muscular Dystrophy (DMD) or Spinal Muscular Atrophy (SMA). Maximal handgrip and key pinch strength were measured with the MyoGrip and MyoPinch dynamometers, respectively. Hand function was assessed using the MoviPlate, the Motor Function Measure items for distal upper limb (MFM-D3-UL) and the Cochin Hand Function Scale (CHFS). Data from 168 participants (91 DMD and 77 SMA, age 6-31 years) were analyzed. Relationships between strength and function were significant (P < 0.001). Hand function was generally preserved when strength was above the strength threshold determined by Receiver-Operating Characteristic (ROC) analysis: For MFM-D3-UL, the calculated handgrip strength thresholds were 41 and 13% of the predicted strength for a healthy subject (% pred) and the key pinch strength thresholds were 42 and 26% pred for DMD and SMA, respectively. For the MoviPlate, handgrip strength thresholds were 11 and 8% pred and key pinch strength thresholds were 21 and 11% pred for DMD and SMA, respectively. For participants with sub-threshold strength, hand function scores decreased with decreasing strength. At equal % pred strength, individuals with SMA had better functional scores than those with DMD. Hand function is strength-dependent for most motor tasks. It declines only when strength falls below a disease-specific threshold. Therefore, therapies capable of maintaining strength above this threshold should preserve hand function.

POLAND SYNDROME: A CASE REPORT

Poland syndrome is a rare but serious condition that can affect a child's development and quality of life. Understanding the clinical features of this syndrome and the risk factors that can cause it is essential for timely diagnosis and treatment. However, there is currently a limited number of scientific studies on this pathological condition, so further research in this area is relevant and requires attention. The aim of the study was to review the literature, clinical features of Poland syndrome in a child and to analyse the risk factors that can lead to the onset of this condition.Results of the study. Premature placental abruption is a condition in which the placenta, an organ that forms during pregnancy to provide nutrition and oxygen to the fetus, detaches from the uterine wall before the onset of labour. It disrupts the balance between the forces of the uterine and fetal muscles, which can lead to thrombosis, bleeding and other complications for both mother and fetus. This condition can be observed in any trimester of pregnancy and requires the attention of doctors for timely diagnosis and treatment. Poland syndrome is a congenital anomaly characterised by chest and muscle defects, as well as other developmental defects. According to the Foucras classification, there are three or four degrees of severity, depending on the level of asymmetry and deformation of the chest. Hypoplasia of the chest muscles, cardiovascular anomalies, hand and finger abnormalities are among the complications that can accompany CP. A clinical study revealed severe chest asymmetry and motor disorders in a child diagnosed with Poland syndrome (incomplete form). The risk factors for premature placental abruption in the mother were a history of previous pregnancy complications and a viral urogenital infection.Conclusions. Studying the clinical features of Poland syndrome and the risk factors leading to its occurrence is important for the timely diagnosis and treatment of this condition in children. Understanding these aspects can help improve the quality of life of patients and prevent complications.

Патологические рефлексы и их реабилитационное значение: краткое сообщение

ABSTRACT INTRODUCTION. In most post-stroke patients, an increase in muscle tone on the hemiplegic side is accompanied by a revival of tendon reflexes and an expansion of their reflexogenic zone, as well as the appearance of specific abnormal reflexes. All these signs have long been considered when diagnosing damage to the pyramidal system in diseases of the spinal cord and brain, but their rehabilitation significance has not yet been considered. AIM. To study and systematize abnormal reflexes — a group of motor automatisms characteristic of damage to the central nervous system, and to evaluate the possibility of using them to optimize rehabilitation methods. CONCLUSION. Based on literature data, the clinical and neurophysiological characteristics of known abnormal reflexes were assessed. It is concluded that it is possible to use lively tendon reflexes, as well as tonic reflexes of the foot and hand (Babinsky and its analogues, Mayer’s, Klippel-Feil, Larry`s reflexes) in rehabilitation practice. The role of phasic abnormal hand and foot reflexes (Rossolimo’s sign and its analogues) in the rehabilitation process is considered insignificant due to their short duration. KEYWORDS: abnormal reflexes, hyperreflexia, Babinski reflex, Rossolimo’s sign, rehabilitation

Пренатальная ультразвуковая диагностика синдрома Шаафа–Янга

Schaaf–Yang syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the MAGEL2 gene. It is characterized by distal joint contractures, muscular hypotonia, swallowing and respiratory difficulties, and developmental delay. Prenatally, the disease manifests as abnormalities of the feet and hands, fetal hypokinesia, and polyhydramnios due to fetal swallowing difficulties. Diagnosis of Schaaf–Yang syndrome is usually made in the postnatal period. There are few publications on prenatal diagnosis of this syndrome since its ultrasonographic features are non-specific and common to many other pathological conditions. This article presents a clinical case of prenatal diagnosis and ultrasound monitoring of the fetus with feet and hand abnormalities and hypokinesia in pregnancy with severe polyhydramnios. Schaaf–Young syndrome was diagnosed postnatally by whole genome sequencing. Key words: camptodactyly, sandal gap deformity, Schaaf-Young syndrome, screening test, ultrasound diagnosis

The role of electrophysiology tests and multimodal imaging in evaluation of nystagmus

Purpose This work aimed to highlight the role of electrophysiology testing and multimodal imaging in evaluation of nystagmus. Patients and methods This is a retrospective multi-centered analytic study that recruited patients with nystagmus from the outpatient clinics referred to the electrophysiology units of the hospitals of the University of Minia, Ain Shams, Banha, and Cairo, Egypt. The study included 60 (120 eyes) patients. The performed investigations included full-field electroretinography (ffERG), pattern electroretinography, flash visual evoked potential (FVEP), pattern visual evoked potential, optical coherence tomography (OCT), OCT-angiography (OCT-A), and fundus autofluorescence (FAF), whenever possible. Results There were no or minimal detectable fundus changes in 78 (65%) eyes, of which 40 (33.3%) eyes showed severe loss of photopic responses on ffERG, with Bull’s eye pattern observed on FAF and loss of foveal photoreceptors in OCT, while 18 (12.5%) eyes showed reduced photopic and scotopic responses in ffERG with loss of foveal photoreceptors and thinned parafovea in OCT, 14 (11.7%) eyes showed average photopic and scotopic responses with different stages of foveal hypoplasia in OCT and OCT-A, and six (5%) eyes showed normal results in tests assessing the function and structure of the macula and optic nerve, including ERG, FVEP, and OCT. On the other hand, macular or optic nerve abnormalities were observed in 42 (35%) eyes, of which 20 (16.7%) eyes showed significant loss of photopic responses in ffERG and abnormal fovea in OCT and FAF tests, 10 (8.3%) eyes showed loss of photopic and scotopic responses in ffERG and abnormal results in the OCT and FAF, four (3.3%) eyes had normal results in ERG and FVEP, but showed fovea hypoplasia in OCT, and eight (6.7%) eyes had normal photopic and scotopic responses by ffERG, but with abnormal visual evoked potential responses and thinning of the nerve fiber layer in the OCT. Conclusion Electrophysiological tests and multimodal imaging are crucial to diagnosing the underlying causes of nystagmus, especially in patients with normal fundus.

Neurophysiological Grading of Ulnar Nerve Entrapment Across wrist and Across Elbow

Ulnar nerve entrapment across the elbow (UNEAE) and across the wrist (UNEAW) is the second most common entrapment of the hand after carpal tunnel syndrome. There are few grading available for UNEAE and fewer in UNEAW. None of those gradings compares the involvements of both (wrist and elbow). None of the literature looks at the involvement of sensory axonal neuropathy in different stages. The aim of this research are;1. To see the relation of sensory nerve involvement across the wrist with the entrapment across the elbow and to evaluate its effectiveness in each level without going for any invasive tests like needle EMG examination. 2. To identify the lesion below and across the wrist in terms of support, the clinical Physiologist (CP) grades them properly and helps the consultant decide to treat with conservative or surgical treatment.3. To compare the recording from the first dorsal interosseous (FDI) muscles with the abductor digiti minimi (ADM) muscle to see which muscle is more sensitive and shows early changes in ulnar nerve entrapment. 4. To differentiate the grading of Guyon’s canal with sensory entrapment below the wrist.5. To analyse the severity of entrapment in both areas (below/across wrist and elbow).The proposed revised grading system is based on more nuanced, descriptive categories, ranging from "early”, "mild”, "moderate” and "severe”. To create a full grading system of UNEAW and UNEAE some additional clinical grading is proposed.Method: Data was collected based on the extensive and detailed grading system previously described by Padua. The tests were performed by a qualified clinical physiologist (neurophysiology) using a Key Point 9033A07 machine, used in line with the departmental protocol (peripheral protocol 1, 2022). The Association of Neurophysiological Scientists (ANS) and British Society of Clinical Neurophysiology (BSCN) (2014) guidelines and minimum standards for the practice of clinical neurophysiology in the United Kingdom were followed. All data was recorded numerically to ensure methodological reliability.Result: The data was collected over one year six months from January 2022 till June 2023. A total of 313 abnormal hands and 200 normal hands were included in this study. Martin Gruber anomalies, which are normal variant, are not included in this study. Out of 313 abnormal hands, 149 hands were right hands and 164 were left hands. 46 hand shows lesion below the wrist and 56 hands shows lesion around Guyon’s canal. Across the elbow shows more mild cases as compared to early, moderate, and severe cases. Moderate ulnar nerve lesion across the elbow are more associated with sensory axonal and double crush cases, which were seen more in mild and moderate cases compared to early and severe cases. Conclusion: Findings show that FDI is more sensitive compared to ADM to recording early changes in ulnar nerve entrapment across the elbow. Additionally, the results show that sensory axonal involvement and double crush syndrome need to be included in the grading system which is not accounted for in any present research publication.

Donor Foot Morbidity Following Nonvascularized Toe Phalanx Transfer Utilizing a New Reconstruction Technique.

Nonvascularized toe phalanx transfer is an accepted surgical option for short and hypoplastic digits in congenital hand abnormalities. However, one of the criticisms of this technique is the donor site morbidity. The purpose of this study was to evaluate donor foot morbidity after nonvascularized toe phalanx transfer using a new donor site reconstruction technique. We retrospectively reviewed 116 nonvascularized toe phalanx transfers in 69 children between 2001 and 2020 in whom the donor foot was reconstructed with a new technique using iliac osteochondral bone graft with periosteum. Feet treated with an isolated donor proximal phalanx of the fourth toe were selected and morbidity was assessed both subjectively and objectively at a minimum of 2 years after surgery. Motion, stability, and alignment of the metatarsophalangeal joint were clinically evaluated. The relative length of the fourth toe to the third toe was measured on a roentgenogram. The satisfaction of the parents for overall function and appearance was evaluated using a visual analog scale. Ninety-four operated feet in 65 patients, including 43 boys and 22 girls, were included. The right foot was evaluated in 52 patients and the left foot in 42 patients. The mean age at operation was 2 years and the mean follow-up period was 7.6 years. Motion at the metatarsophalangeal joint was good at 69% with an average extension of 45 degrees and flexion of 25 degrees. Stability and alignment were good at 95% and 84%, respectively. Only 4 toes had gross instability and 4 toes with poor alignment required revision surgery. Sixty-two toes (66%) maintained proportional length and 9 toes were graded as short. Parental satisfaction was high for appearance as well as function. This newly described technique of using iliac osteochondral bone graft with periosteum to reconstruct toe phalanx donors provided satisfactory results. The function and appearance of the donor foot after a nonvascularized toe phalanx transfer was well preserved. Level IV; therapeutic.

In Silico Analysis to Predict the Pathogenic Variants of CANT1 Gene Causing Desbuquios Dysplasia (DBQD) Type 1

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia that belongs to the multiple dislocation group and causes parental and afterbirth growth retardation, hand and proximal femur abnormalities, joint laxity, and scoliosis. Several missense and splice site mutations in CANT1 gene are linked with the development of DBQD. In silico approaches can predict the pathogenic variations causing hereditary diseases. Hence, in the current study, in silico analysis was used to forecast the variants of CANT1 gene that harm the functionality of calcium-dependent nucleotidase. A total of 281 variants with uncertain significance, retrieved from the gnomAD, dbSNP, ClinVar, and Variation Viewer databases, were analyzed using CADD, Meta SNP, CAPiCE, and Condel to predict 61 highly pathogenic variants. Stability change predicting computational tools were applied to filter 19 highly pathogenic amino acid variants that impact protein dynamics via sample conformation or during vibrational entropy. UCSF Chimera was used for interactive visualization and analysis of unwanted interaction among 5 variants in the molecular structure of the protein. Ligand binding computational tools were used to interpret the protein-ligand interactions. A total of three (3) post-translational modification sites were also predictably disrupted by 16 variants. Spice and HSF 3.1 tools were applied to 95 variants to check their disease-causing potential. The variants of the gene were analyzed using computational tools based on different algorithms. The most damaging variants of CANT1 gene that can affect the functionality and stability of the protein were predicted. It was determined that an extensive in silico analysis can determine the likely pathogenic variations for further in vitro experimental analysis.

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Background: To describe the genetic variation of dynein cytoplasmic 2 heavy chain 1 (DYNC2H1) gene in four Chinese families affected with short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3), and to provide evidence for accurate prenatal diagnosis and genetic counseling. Methods: The detailed clinical prenatal sonographic features of four fetuses with SRTD3 were carried out. Trio-whole exome sequencing (WES) and proband-WES sequencing was applied to filtrated causative variants in four families. The causative variants of each family were validated in by Sanger sequencing. Bioinformation analysis was applied to predict the harmfulness of these mutations and perform the protein-protein interaction network and Gene Ontology (GO) analysis. A vitro minigene splicing assay was conducted to assess the influence of the splice site variant. Results: Typical characterization of the four fetuses included short long bones, short ribs, narrow chest, hand and foot posture abnormalities, femur short in diameter and slightly bowing, cardiac abnormalities, and so on. Moreover, eight compound heterozygous variants of DYNC2H1 (NM_001080463.2): c.3842A>C (p.Tyr1281Ser) and c.8833-1G>A, c.8617A>G (p.Met2873Val) and c.7053_7054del (p.Cys2351Ter), c.5984C>T (p.Ala1995Val) and c.10219C>T (p.Arg3407Ter), c.5256del (p.Ala1753GlnfsTer13) and c.9737C>T (p.Thr3246Ile), were identified. Among which, c.10219C>T (p.Arg3407Terp), c.5984C>T (p.Ala1995Val) and c.9737C>T (p.Thr3246Ile) were reported in ClinVar databases, and c.8617A>G (p.Met2873Val), c.10219C>T (p.Arg3407Ter), c.5984C>T (p.Ala1995Val) were found in HGMD databases. Four variants (c.3842A>C (p.Tyr1281Ser), c.8833-1G>A, c.7053_7054del (p.Cys2351Ter) and c.5256del (p.Ala1753GlnfsTer13) were first reported as novel mutations. According to the ACMG guidelines, c.8617A>G (p.Met2873Val), c.7053_7054del (p.Cys2351Ter), c.5984C>T (p.Ala1995Val), c.10219C>T (p.Arg3407Ter) and c.5256del (p.Ala1753GlnfsTer13) were rated as pathogenic or likely pathogenic variants, others variants were predicted to be variants of uncertain significance mutations. The minigene assay results indicated that c.8833-1G>A caused the skipping over exon 56, resulting in exon 56 loss. Conclusion: In our study, we analyzed the genetic mutations in four fetuses with SRTD3 by whole exome sequencing and identified pathogenic variants causing SRTD3. Our results expand the mutation spectrum of DYNC2H1 in SRTD3, which is helpful for the accurate prenatal diagnosis of SRTD3 fetuses and provide useful strategies for genetic counseling.

New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception

BackgroundDuplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestations include characteristic facial dysmorphic features, microcephaly, hirsutism, congenital heart disease, genitourinary anomalies, hand and feet abnormalities, growth disturbances and intellectual disability. Most of cases are due to unbalanced translocations, inherited from a parent carrying a balanced aberration (reciprocal translocation or inversion), and rarely the genomic anomaly arises de novo. Very few studies report on the prenatal identification of such rearrangements.Case presentationHereby, we report on a newborn with a rare pure duplication of the long arm of chromosome 3. Noninvasive prenatal test (cell free fetal DNA analysis on maternal blood), performed for advanced parental age and use of assisted reproductive technique, evidenced a partial 3q trisomy. Then, invasive cytogenetic (standard and molecular) investigations, carried out through amniocentesis, confirmed and defined a 3q27.1-q29 duplication spanning 10.9 Mb, and including about 80 genes. Our patient showed clinical findings (typical facial dysmorphic features, esotropia, short neck, atrial septal defect, hepatomegaly, mild motor delay) compatible with partial trisomy 3q syndrome diagnosis, in addition to pre- and postnatal overgrowth.ConclusionsAdvanced parental age increases the probability of chromosomal and/or genomic anomalies, while ART that of epigenomic defects. Both conditions, thus, deserve more careful prenatal monitoring and screening/diagnostic investigations. Among the latter, cell free fetal DNA testing can detect large segmental aneuploidies, along with chromosomal abnormalities. It identified in our patient a wide 3q rearrangement, then confirmed and defined through invasive molecular cytogenetic analysis. Neonatologists and pediatricians must be aware of the potential risks associated to duplication syndromes. Therefore, they should offer to affected subjects an adequate management and early and careful follow-up. These may be able to guarantee to patients satisfactory growth and development profiles, prevent and/or limit neurodevelopmental disorders, and timely recognition of complications.

Clinicopathological Profiles of Anemia in Children of 6 Months to 17 Years Age

Introduction: Anaemia is defined as a decreased concentration of hemoglobin and RBC mass as compared to the values in age-matched controls. Anaemia in children is one of the major social health problems in India and in many parts of the world, since anemic children have reduced exercise capacity, slower rate of growth, impaired cognitive development, and delayed wound healing. The aim of this study was to find the prevalence of anemia in different age group, sex, and its pattern of severity in hospitalized children. Materials and Methods: This are a Retrospective Study conducted in the Department of Pediatrics, Apollo Institute of Medical Sciences and Research among Children with Anemia and those Admitted with other Complaints but Incidentally have Found to have Anemia. During physical examination following signs and symptoms were noted: Pallor, edema, clubbing, skin (dryness, rashes, irritation), abnormal pigmentation, coarse hair, puffiness of face, thinning of eyebrows, nail defects, ulceration, abnormalities in genitalia, hand and feet abnormalities, nose, eyes, cranium, ear and face. Grading of anemia among different age groups was done using WHO Hemoglobin concentrations for the diagnosis of anemia and assessment of severity criteria. Microscopic evaluation of blood was also done to obtain the microscopic picture. Result: In our study, According to WHO criteria for diagnosis and assessment of severity of anemia, a total of 90 children were graded as having mild anemia 40 (44.4%), followed by 35 (38.9%) were graded as having severe anemia and remaining moderate anemia 15 (16.7%). Microcytic hypochromic picture in 56%, Normocytic hypochromic anaemia 18.8%, normocytic normochromic in 12.2%, Dimorphic anaemia 7.7% and macrocytic in 4.4% cases. Conclusion: Paediatric anaemias are very common since children are the most vulnerable population for occurrence of these anaemias. This necessitates prompt screening and early diagnosis through investigations byutilization of available advanced technical modalities in order to initiate timely treatment and appropriate management.

Automatic detection of abnormal hand gestures in patients with radial, ulnar, or median nerve injury using hand pose estimation.

Radial, ulnar, or median nerve injuries are common peripheral nerve injuries. They usually present specific abnormal signs on the hands as evidence for hand surgeons to diagnose. However, without specialized knowledge, it is difficult for primary healthcare providers to recognize the clinical meaning and the potential nerve injuries through the abnormalities, often leading to misdiagnosis. Developing technologies for automatically detecting abnormal hand gestures would assist general medical service practitioners with an early diagnosis and treatment. Based on expert experience, we selected three hand gestures with predetermined features and rules as three independent binary classification tasks for abnormal gesture detection. Images from patients with unilateral radial, ulnar, or median nerve injuries and healthy volunteers were obtained using a smartphone. The landmark coordinates were extracted using Google MediaPipe Hands to calculate the features. The receiver operating characteristic curve was employed for feature selection. We compared the performance of rule-based models with logistic regression, support vector machine and of random forest machine learning models by evaluating the accuracy, sensitivity, and specificity. The study included 1,344 images, twenty-two patients, and thirty-four volunteers. In rule-based models, eight features were finally selected. The accuracy, sensitivity, and specificity were (1) 98.2, 91.7, and 99.0% for radial nerve injury detection; (2) 97.3, 83.3, and 99.0% for ulnar nerve injury detection; and (3) 96.4, 87.5, and 97.1% for median nerve injury detection, respectively. All machine learning models had accuracy above 95% and sensitivity ranging from 37.5 to 100%. Our study provides a helpful tool for detecting abnormal gestures in radial, ulnar, or median nerve injuries with satisfying accuracy, sensitivity, and specificity. It confirms that hand pose estimation could automatically analyze and detect the abnormalities from images of these patients. It has the potential to be a simple and convenient screening method for primary healthcare and telemedicine application.

STUDY OF SKIN CHANGES, HAND ABNORMALITIES AND PULMONARY MANIFESTATIONS IN DIFFUSE SCLERODERMA IN A TERTIARY CARE HOSPITAL OF EASTERN INDIA

Introduction: Scleroderma is a connective tissue disease characterized by brosis affecting the skin and internal organs.Joint involvement has been reported to occur in 46%- 97% of SSc patients. Bone and soft tissues may also be targeted; calcinosis and acro-osteolysis are thought to be the main characteristic ndings in SSc. Pulmonary disease in SSc falls into two major categories: interstitial lung disease (ILD) and pulmonary hypertension. Using PFTs, signicant pulmonary involvement is detectable in 25% of the patients with SSc within 3 years of initial diagnosis. The gold standard for determination of PAH in patients with SSc is right heart catheterization. The HRCT features of lung disease are ground-glass opacication predominant or admixed with reticular abnormalities in the majority of cases and little or no honeycombing. To study the demographic prole, Clini Aims and Objectives: cal Manifestations, Radiological abnormalities, Lung involvement and PAH. 35 newly diagnosed Sclederma patients Materials and Methods: attending Medicine and Rheumatology OPD of Medical College Kolkata were studied in this Cross-sectional observational study. Clinical Manifestations are noted and Radiological Investigations were recorded in structured Proforma. Data analysed using standard statistical methods. In Results and Analysis: our study, the study population had an F: M ratio of 10:1. majority of population (38%) having age group(30-40) yrs followed by less than 30 yrs &amp; 41yrs or more (31% each). In our study clinically hand abnormality was evident in 69% patients &amp; radiologically hand abnormality was evident in 74% patients. In our study population 29% patients have had acroosteolysis, 26% patients had erosion &amp; 19% patients had exion contracture. In our study we found all the patient with documented ILD had abnormal PFT. In our study group restrictive pattern in PFT was evident in 63% patients &amp; mixed pattern was evident in 23% patients. Twelve patients (35% of the total cohort) had pulmonary hypertension dened as PAs of 30 mm Hg or greater. In our study we found Out of 30 patients with documented ILD in HRCT 20 patients had PAH &amp; 10 patients had no PAH. Females are more affected than males. Majority Conclusion: of the patients affected are in the age group of 30-40 years.69% patients had clinically evident hand abnormality and 74% patients had radiologically evident hand abnormality.CXR showed ILD in 63% patients whereas86% patients had documented ILD in HRCT.Restrictive pattern of PFT abnormality is more than mixed pattern.57% patients had documented PAH in echocardiography.HRCT is more sensitive than chest radiography for detection of ILD.