Ectrodactyly Research Articles

Insight into Paediatric Versus Adult Leprosy: A Comparative, Analytical Study from India

Abstract Background: Pediatric leprosy, though relatively less common compared to adult cases, presents challenges in diagnosis, treatment, and management. Despite global efforts to eradicate leprosy, it remains endemic in certain regions, particularly low-resource settings. Objectives: To analyse differences in clinical presentation of pediatric leprosy as compared to adult leprosy from leprosy clinic records of a tertiary care hospital and outline the clinical implications. Methods: A retrospective analysis of the records of all the registered paediatric (aged ≤ 18 years) and adult cases of leprosy from January 2010 to December 2021 (12-year period) who presented to the leprosy clinic of Guru Teg Bahadur Hospital in Delhi was carried out. History, examination, and investigation parameters were noted from standardised case record forms. The variables were compared between cases of childhood and adult leprosy. Results: Out of total 1006 recorded cases of leprosy, 16.8% were children and 83.2% were adults. Maximum cases (65.7%) were of borderline tuberculoid (BT) leprosy in children compared to 41.7% BT cases in adults. Type 1 and type 2 leprosy reactions were seen in 11.2% and 7.1% paediatric cases, respectively, compared to 9.8% and 12.3% cases in adults, respectively. Paralytic deformity was seen in 32.5% child cases and 35% adult cases. Claw hand and foot drop was seen in 17.2% and 3.6% cases of leprosy in children and 16.1% and 6.5% cases in adults. A total of 11.8% children developed facial palsy. Slit skin smear was positive in 15.4% paediatric and 30.1% adult cases. Treatment was completed in 65.1% child cases and 27.8% children defaulted. In adult cases, treatment was completed in 61.8% cases and 28.9% cases defaulted. Conclusion: Paediatric leprosy in our study had a high number of cases of type 1 lepra reaction, paralytic deformities, disabilities, pure neuritic leprosy, and default rate. Our study highlights the need of early detection, timely intervention, and increasing community awareness to ensure early and adequate management of paediatric leprosy.

Nerve transfer of the median flexor pollicis brevis branch to the deep branch of the ulnar nerve for ulnar nerve palsy: a cadaveric feasibility study.

An ulnar nerve (UN) palsy is devastating for hand function, resulting in an intrinsic minus position or claw hand with a loss of pinch grip. Distal nerve transfers facilitate faster reinnervation of hand intrinsic muscles in cases of proximal ulnar nerve lesions. The traditional anterior interosseous nerve (AIN) to UN motor transfer is commonly used, however, this still leads to long reinnervation times for the distal intrinsic muscles, important for the thumb to index pinch grip. This study investigated the feasibility of a more distal nerve transfer, from the median thenar to the deep branch of the UN (DBUN), in six cadaveric hands. A separate branch of the median nerve to the superficial head of flexor pollicis brevis (sFPB) arose distally of the thenar branch from the common digital nerve of the thumb shortly before the bifurcation of the ulnar palmar digital nerve to the thumb in all specimens, with a mean distance to the thenar branch of 8.3 ± 5.3 mm. The sFPB motor branch had a mean length of 11.5 ± 1.5 mm. The mean distance between the division of the dorsal cutaneous branch of the UN, where the AIN to UN motor transfer is usually performed, and the transfer between the sFPB branch to the DBUN was 132 ± 11 mm. A distal nerve transfer between the median innervated motor branch to the sFPB to the DBUN shortens the reinnervation distance for the first dorsal interosseous, the adductor pollicis, and the deep head of the FPB muscles, which is a prerequisite for restoration of the pinch grip.

Anatomical Characterization of the Motor Branch to the Fourth Lumbrical: A Cadaver Study.

The branching pattern of the deep motor branch of the ulnar nerve (DBUN) in the hand is complex. The anatomy of the motor branch innervating the fourth lumbrical (4L), where paralysis results in a claw hand deformity after ulnar nerve injury, is not well defined. This cadaver study focused on mapping and defining anatomical landmarks in relation to the motor branch to the 4L. Ten fresh-frozen cadaver hands were dissected. The DBUN was exposed and followed distally, identifying all motor branches, until the branch to the 4L was seen. The small finger flexor tendons were reflected distally to enable visualization of the entire 4L motor branch and its distal entry point. The origin of the 4L motor branch was mapped in relation to fixed anatomical landmarks in the hand. A consistent motor branch to the 4L and third palmar interosseous (3PI) muscles was seen originating from the DBUN in all specimens. The mean number of motor branches innervating the hypothenar muscles proximal to the 4L/3PI motor branch was 2.1 (range 1 to 5). The mean distance from the origin of the DBUN to the 4L/3PI motor branch was 2.9 cm (range 2.5 to 4.2 cm). The mean length of the 4L/3PI branch was 3.1 cm (range 2.3 to 4.5 cm). In seven specimens, the 4L/3PI branch demonstrated an intramuscular course through the 3PI before terminating in the 4L. In three specimens the 4L/ 3PI branch ran on the volar surface of the 3PI before terminating in the 4L. A consistent 4L/3PI motor branch was mapped and characterized in all specimens. These findings provide a guide for intraoperative localization of the 4L/3PI motor branch and also may provide further evidence to explain findings seen after distal nerve transfers to treat ulnar nerve injury.

Histological and immunohistochemical analysis of gonadal development in the veiled chameleon (Chamaeleo calyptratus)

AbstractChameleons are a family of lizards distinguished by several unique features related to their arboreal lifestyles, such as a ballistic tongue, skin color changes, independent movement of both eyes, a prehensile tail, and cleft hands and feet. The veiled chameleon (Chamaeleo calyptratus) has been proposed as a promising model species for studying squamate biology. Despite its potential, the developmental biology of this species remains poorly understood, particularly in terms of gonadal development. This study aimed to elucidate the development of the gonads in the veiled chameleon, from the initial appearance of the gonadal ridges through the sexual differentiation into ovaries and testes, to the establishment of the gonadal structures in both sexes. The study showed the accelerated appearance of gonadal primordia compared to the soma in the veiled chameleon, which is unique and possibly influenced by a prolonged in ovo development period due to the slowed rate of embryonic development in this species. The undifferentiated gonads are characterized by a voluminous medulla and a thin cortex. The process of gonadal sexual differentiation mirrors that seen in other vertebrates. Ovarian differentiation involves the development of a cortex containing germ cells and the loss of these cells in the medulla. Differentiated ovaries are characterized by a thin cortex and early induction of meiosis, leading to the formation of ovarian follicles before hatching. In contrast, testis differentiation involves the loss of germ cells from the cortex, its transformation into a thin epithelium, and the development of germ cell‐containing testis cords in the medulla. The testis cords originate from invagination and remain without forming a lumen during embryogenesis. This comprehensive examination of gonadal development in the veiled chameleon provides important insights into sexual differentiation processes in this species. Moreover, it may stimulate further, broader studies in vertebrate developmental biology.

Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

Split hand-foot malformation (SHFM) is a congenital limb malformation affecting primarily the central rays of the hands and/or feet, with variable expressivity, incomplete penetrance and syndromic forms. It is genetically heterogeneous, including point mutations and structural variants in different loci. Five individuals with SHFM were clinically evaluated in a Tertiary Center in Brazil: four of them presented additional, nonskeletal findings, including one individual with split foot, hand syndactyly, and ectodermal findings. Structural variants and point mutations in genes associated with SHFM were identified in all individuals. Our results highlight genetic heterogeneity observed in this group of skeletal disorders, alongside incomplete penetrance, a challenging task imposed on genetic counseling. Of note, an individual harboring a recurrent heterozygous variant in MAP3K20 presented a phenotype reminiscent of TP63-related disorders, contrary to the one recently reported in the literature with prominent facial dysmorphisms, expanding the phenotypic spectrum of this newly recognized syndromic form of SHFM.

Reverse Split Hand as a Neurophysiological Hallmark of Spinal Muscular Atrophy.

Objective: Motor unit number estimation (MUNE) methods are crucial for estimating lower motor neuron loss in motor neuron diseases. The MScanFit MUNE (MScanFit) is a novel method that estimates MUNE values from compound motor action potential (CMAP) scans, demonstrating high sensitivity and reproducibility in detecting motor unit loss in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). In this study, we aimed to characterize the pattern of motor unit loss in the hand intrinsic muscles of SMA patients compared to ALS patients and healthy controls (HC) using MScanFit MUNE. Methods: Patients diagnosed with ALS, adult SMA patients, and HC were prospectively enrolled. MScanFit examinations were performed on the abductor pollicis brevis (APB) and abductor digiti minimi (ADM) muscles. To focus on the different patterns of motor neuron degeneration in the intrinsic hand muscles, the ratio of CMAP amplitude of APB to ADM (CMAP ratio) and the ratio of MUNE values of APB to those of the ADM muscle (MUNE ratio) were calculated. Results: The study included 46 ALS patients, 16 SMA patients, and 23 HC. MScanFit MUNE revealed distinct patterns of motor unit degeneration in SMA patients, notably more severe in the ADM than in the APB muscle, indicating a "reverse" split-hand phenomenon. Both CMAP and MUNE ratios demonstrated high diagnostic accuracy in distinguishing ALS from SMA, with the MUNE ratio performing better. Conclusions: MScanFit MUNE is a valuable tool for exploring distinct patterns of motor neuron degeneration in patients with different types of motor neuron diseases.

Split hand and minipolymyoclonus in spinocerebellar ataxia type 3: a case report

BackgroundSpinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease, is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in exon 10 of ATXN3. Extra-cerebellar manifestations, including external ophthalmoplegia, dystonia, Parkinsonism, and peripheral neuropathy, are predominantly present in SCA3 cases. Here, we report a case of SCA3 presenting with a split hand and minipolymyoclonus.Case presentationA 73-year-old female patient presented with a 5-year history of ataxic gait. Neurological examination revealed cerebellar ataxia and minipolymyoclonus in the digits on both sides and muscle atrophy in the right hand, consistent with the split hand pattern. Electrodiagnostic studies demonstrated decreased amplitude of compound muscle action potentials and neurogenic motor unit potentials, indicating lower motor neuron involvement.ConclusionsOur patient’s case indicated a split hand and minipolymyoclonus in SCA3. Clinicians should consider these extra-cerebellar manifestations in patients with SCA3. Although neither split hand nor minipolymyoclonus are likely to directly result in a specific etiological diagnosis, a common pathophysiological mechanism for both may be lower motor neuron involvement. This extracerebellar manifestation contributes to narrowing down the diagnostic possibilities for cases presenting with progressive cerebellar ataxia.

Evaluation of Split Hand Syndrome in Early Diagnosis of Amyotrophic Lateral Sclerosis by Nerve Conduction Study as a Diagnostic Tool

Background: Amyotrophic lateral sclerosis (ALS), a degenerative disease of the motor neurons that can present diversly. Needle electromyography (EMG) is the gold standard investigation for the diagnosis of ALS. Split hand syndrome (SHS) demonstrated by nerve conduction study (NCS); a noninvasive tool could be useful in diagnosing ALS. This study aimed to assess SHS by NCS in ALS. Methods: This diagnostic accuracy case-control study included 37 cases of ALS and 37 age and gender-matched controls. Compound muscle action potential (CMAP) and distal motor latency (DML) of median and ulnar nerves and the ratio of median and ulnar CMAP and DML were compared between study groups. The diagnostic validity testing of electrophysiological SHS was also done. Results: The mean age of the ALS and control groups were similar, 39.8±2.7 and 39.3±2.6 years, respectively. Sixteen (43.2%) ALS patients were in 30-59 years age group. Male-female ratio was 5.2. In the ALS group, median-ulnar CMAP ratio was lower and median-ulnar DML ratio was prolonged than the control. The diagnostic efficacy of median-ulnar CMAP ratio and DML ratio were calculated. A median-ulnar CMAP ratio cut-off value ≤1 showed 70% sensitivity, 97% specificity, 96% positive predictive value and 77% negative predictive value. A median-ulnar DML ratio cut-off value ≥1.5 showed 48% sensitivity, 89% specificity, 82% positive predictive value and 65% negative predictive value. Conclusion: NCS demonstrating SHS can be an important tool in the early diagnosis of ALS. J Bangladesh Coll Phys Surg 2024; 42: 350-354

Excision of large median and ulnar nerve schwannomas: a case series

ObjectiveSchwannomas are benign, slow-growing tumors originating from Schwann cells in peripheral nerves, commonly affecting the median and ulnar nerves in the forearm and wrist. Surgical excision is the gold standard treatment. This study presents our treatment strategies and outcomes for large-sized ulnar and median nerve schwannomas at the forearm and wrist level.MethodsFrom 2012 to 2023, we enrolled 15 patients with schwannomas over 2 cm in size in the median or ulnar nerve at the forearm and wrist. The study included 12 patients with median nerve schwannomas (mean age: 61 years) and 3 with ulnar nerve schwannomas (mean age: 68 years), with a mean follow-up of 26.9 months.ResultsAfter surgery, all patients with median nerve schwannomas experienced mild, transient numbness affecting fewer than two digits, resolving within six months without motor deficits. Ulnar nerve schwannoma excision caused mild numbness in two patients, also resolving within six months, but all three developed ulnar claw hand deformity, which persisted but improved at the last follow-up. Despite this, patients were satisfied with the surgery due to relief from severe tingling pain.ConclusionsSchwannomas of the median, ulnar, and other peripheral nerves should be removed by carefully dissecting the connecting nerve fascicles to avoid injury to healthy ones. Sensory deficits may occur but are unlikely to significantly impact quality of life. However, in motor-dominant nerves like the ulnar nerve, there is a risk of significant motor deficits that could affect hand function, though not completely. Therefore, thorough preoperative discussion and consideration of interfascicular nerve grafting are essential.

The Biomechanical Interpretation of Claw Hand Deformity with Principle and Application of Anti-claw Orthosis/Splint in Hand Rehabilitation: A Descriptive Management Strategy in Daily Clinical Practice

Abstract Orthosis/splints for the claw hand deformity have been in use for several decades for rehabilitation of the hand after isolated ulnar palsy or combined ulnar and median nerve palsy. In the current study, we have reviewed the anatomy and pathomechanics of claw hand deformity, the mechanical principles of various types of hand splints/orthosis and their clinical application in hand rehabilitation.

Peripheral giant cell granuloma in a child with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report

BackgroundEctrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome mainly affects ectodermal and mesodermal tissues. It is usually manifested as split hands and feet, ectodermal dysplasia, and orofacial clefting, along with other signs and symptoms. A multidisciplinary approach to treatment is required, in which dentists play an important role in identifying and treating various oral conditions that may be genetically linked to or may be the result of EEC syndrome.Case presentationThe present case describes the oral condition of a young child suffering from EEC syndrome and presenting with peripheral giant cell granuloma (PGCG) in the mandibular anterior region. After obtaining a thorough medical and family history and a clinical examination, the lesion was surgically excised under local anesthesia. The patient was followed up at periodic intervals for the next twenty four months, during which no recurrence of the lesion was observed.ConclusionThis report highlights the role of a dentist in the management of the oral conditions of patients suffering from EEC syndrome.

A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly

AbstractFetal split hand foot malformation (SHFM) syndrome is a rare congenital disorder characterized by developmental abnormalities of fingers and/or toes, resulting in a split appearance. SHFM is sporadic and shows mainly autosomal dominant inheritance with variable clinical presentation. Prenatal diagnosis plays a crucial role in the management and in counseling of affected families. In this case report, we present the diagnosis of SHFM through ultrasound imaging and genetic testing in a primigravida, along with post abortal fetal findings. The aim was to highlight the importance of early detection during routine ultrasound and genetic counseling for appropriate understanding and management of this rare limb condition.

Physiological Biomarkers of Upper Motor Neuron Dysfunction in ALS.

Upper motor neuron (UMN) dysfunction is an important feature of amyotrophic lateral sclerosis (ALS) for the diagnosis and understanding of pathogenesis. The identification of UMN signs forms the basis of ALS diagnosis, although may be difficult to discern, especially in the setting of severe muscle weakness. Transcranial magnetic stimulation (TMS) techniques have yielded objective physiological biomarkers of UMN dysfunction in ALS, enabling the interrogation of cortical and subcortical neuronal networks with diagnostic, pathophysiological, and prognostic implications. Transcranial magnetic stimulation techniques have provided pertinent pathogenic insights and yielded novel diagnostic and prognostic biomarkers. Cortical hyperexcitability, as heralded by a reduction in short interval intracortical inhibition (SICI) and an increase in short interval intracortical facilitation (SICF), has been associated with lower motor neuron degeneration, patterns of disease evolution, as well as the development of specific ALS clinical features including the split hand phenomenon. Reduction in SICI has also emerged as a potential diagnostic aid in ALS. More recently, physiological distinct inhibitory and facilitatory cortical interneuronal circuits have been identified, which have been shown to contribute to ALS pathogenesis. The triple stimulation technique (TST) was shown to enhance the diagnostic utility of conventional TMS measures in detecting UMN dysfunction. Resting-state EEG is a novel neurophysiological technique developed for directly interrogating cortical neuronal networks in ALS, that have yielded potentially useful physiological biomarkers of UMN dysfunction. The present review discusses physiological biomarkers of UMN dysfunction in ALS, encompassing conventional and novel TMS techniques developed to interrogate the functional integrity of the corticomotoneuronal system, focusing on pathogenic, diagnostic, and prognostic utility.

Insights into phenotypic variability caused by GARS1 pathogenic variants.

Pathogenic variants of the glycyl-tRNA synthetase 1 (GARS1) gene have been described as a cause of Charcot-Marie-Tooth disease type 2D, motor axonal neuropathy with upper limb predominance (distal hereditary motor neuropathy [dHMN] type V), and infantile spinal muscular atrophy. This cross-sectional, retrospective, observational study was carried out on 12 patients harboring the c.794C>T (p.Ser265Phe) missense pathogenic variant in GARS1. The patients' clinical data, nerve conduction studies, magnetic resonance imaging (MRI), and intraepidermal nerve fiber density in skin biopsies were reviewed. The mean age at onset was 9.5 years; the intrinsic hand muscles were affected before or at the same time as the distal leg musculature. The clinical examination revealed greater weakness of the distal muscles, with a more pronounced involvement of the thenar complex and the first dorsal interosseous in upper limbs. Electrophysiological studies were concordant with an exclusively motor axonal neuropathy. A pathologic split hand index was found in six patients. Muscle MRI showed predominant fatty infiltration and atrophy of the anterolateral and superficial posterior compartment of the legs. Most patients reported distal pinprick sensory loss. A reduced intraepidermal nerve fiber density was evident in skin biopsies from proximal and distal sites in nine patients. GARS1 variants may produce a dHMN phenotype with "split hand" and sensory disturbances, even when sensory nerve conduction studies are normal. This could be explained by a dysfunction of sensory neurons in the dorsal ganglion that is reflected as a reduction of dermal nerve endings in skin biopsies without a distal gradient.

A Modification to the Brand Transfer for Claw Hand: The Four-Tailed Extensor Carpi Radialis Brevis to Lateral Band Transfer

Background: Claw deformity is a devastating consequence of low ulnar nerve palsy, resulting in loss of finger function. Traditionally, the Brand transfer is a favored intervention but requires lengthy grafts and bulky tenorrhaphies, risking adhesions in the lumbrical canal. We present a modified Brand tendon transfer, which extends the extensor carpi radialis brevis (ECRB) into 4 tails for individual grafting into the lateral band, decreasing adhesion risk and graft length need. Methods: Nine consecutive patients with claw hand were examined in detail to confirm the diagnosis and appropriateness for claw-correction surgery by the senior author. All patients underwent our modified Brand transfer. Follow-up for a minimum of 6 months was pursued for each patient, with range of motion, grip strength, and pinch strength recorded at that time. Results: Treated patients demonstrate maintained grip and pinch strength, coordinated grasp, and improvement in metacarpophalangeal posture. One patient required reoperation for extensive scarring and underwent tenolysis of the tendon grafts and revision grafting for the small finger. Conclusion: We concluded that our modified weave of a 4-tailed tendon graft through the ECRB is a synergistic transfer that maintains acceptable hand strength in the setting of a chronic low ulnar nerve palsy with a lower risk of tendon adhesion and length of grafting, offering an additional tool in the armamentarium of the hand surgeon approaching the ulnar nerve–injured hand.

Cubital Tunnel Syndrome Due to Intraneural Ganglion Cysts of the Ulnar Nerve With Joint-Cyst Connection at the Elbow.

The unifying articular theory suggests that intraneural ganglion cysts in the cubital tunnel arise from the elbow joint and are connected to the ulnar nerve through an articular branch. This study aimed to report our clinical experience with these cysts and our surgical findings and outcomes. We retrospectively analyzed 13 patients who underwent surgery for cubital tunnel syndrome caused by an intraneural ganglion cyst of the ulnar nerve. Clinical symptoms, physical examination findings, nerve conduction testing electromyography, plain radiography, and ultrasonography were evaluated before and after surgery. MRI was performed in 2 patients. Cyst decompression, disconnection of the articular branch, and ulnar nerve transposition were performed in all. The mean follow-up was 29 months. After surgery, local elbow pain and Tinel sign disappeared in all patients, and the average Numerical Rating Scale dropped from 3.7 (2-5) to 0 (0-0). Two-point discrimination testing was normal (<5.0 mm) in 12 patients. Wartenberg sign and "claw hand" deformity became negative, and muscle function and motor nerve conduction velocity were improved in 12 patients. The Medical Research Council muscle strength grade was M4 or M5 in the flexor carpi ulnaris, flexor digitorum profundus of the 4th and 5th digits, and first dorsal interosseous muscle in 12 patients. Postoperative spontaneous potentials including fibrillation and sharp waves, and motor unit recruitment in the first dorsal interosseous muscle were obviously improved. A cystic articular branch was confirmed during surgery in all patients. No cyst recurred clinically or on follow-up ultrasonography. The unifying articular theory of intraneural ganglion cysts applies to those located in the ulnar nerve at the elbow. Surgical disconnection of the articular nerve branch from the ulnar nerve eliminated the pathway for cyst recurrence and achieved good long-term outcomes.

Clinical Profile of Leprosy in Post-elimination Era in a Tertiary Care Hospital

Introduction Leprosy is a chronic disease that primarily affects peripheral nerves and skin. It has a long incubation period and clinical presentations are variable leading to deformities and social stigma. Leprosy was eliminated in Nepal in 2010 AD. This study was undertaken to determine the demographic and clinical profile of Leprosy in the past three years. MethodsA retrospective observational study was conducted in the Department of Dermatology and Venereology, Tribhuvan University Teaching Hospital. Records of all the newly diagnosed leprosy patients attending the Out-Patient Department from April 2021 to March 2023 were reviewed retrospectively and analyzed. ResultsThere were 109 newly diagnosed leprosy cases among which majority were males. The maximum clinical diagnosis was lepromatous leprosy and 100 (91.74%) cases were multibacillary. Type 1 lepra reaction was seen in 11 (10.09%) patients and 12 (11%) patients had type 2 lepra reaction. Slit skin smear was positive in 75 (68.80%) patients. On clinical examination, peripheral nerves were palpable in 92 (84.4%) patients with ulnar nerve being the most common palpable peripheral nerve. Type 1 deformity was present in 55 (50.45%) patients and 18 (16.51%) patients had type 2 deformity. Claw hand was the most common type 2 deformity observed. ConclusionThough leprosy has been eliminated in Nepal, there are still considerable cases of Leprosy. Higher number of cases with multibacillary disease and increasing number of Lepra reaction is an alarming sign.

Nerve Magnified Regeneration by Distal Nerve Transfer in High Ulnar Nerve Injury

The concept of nerve-magnified regeneration, part of which is end-to-side nerve transfer, provides a theoretical basis for the treatment of high ulnar nerve injuries. High injury to the ulnar nerve causes severe consequences, such as loss of sensation, loss of movement and “claw hand” deformity, affecting the fine motor skills of the hand. A method of nerve-magnified regeneration – distal nerve transfer – interosseous anterior (median nerve) to the deep ulnar nerve at the wrist level is presented, used in 20 patients (2 to 66 years of age) with an average follow-up period of 3 years (10 months to 5 years). This is a microsurgical method for rapid re-innervation of the most distal hand muscles in proximal neurotmesis of ulnar nerve.

Efektivitas Pemberian Terapi Latihan Terhadap Aktivitas Fungsional Pada Pasien Claw Hand E.C. Morbus Hansen

Leprosy is a chronic infectious disease caused by Mycobacterium leprae that affects the skin, peripheral nerves, mucosal surfaces of the respiratory tract, muscles and bones. Most leprosy patients experience paralysis of the ulnar nerve which causes partial disruption of the fingers or called clawhand where the finger is like a bird's claw. Purpose: this study is to determine the benefits of exercise therapy on functional activity in patients with Claw Hand e.c Morbus Hansen. Method: This study uses a case report method conducted at Kelet Donorejo Hospital by taking a sample of one of the leprosy patients by providing exercise therapy for 3 therapy sessions. Furthermore, measuring the first therapy and the third therapy. Results: In this study, the results of physiotherapy interventions were obtained, namely showing an increase in muscle strength even though it was not significant, showing a decrease in pain, in measuring nerve thickening there was no change, motor nerve function and functional measurements of the hand there was an increase even though it was not significant. Conclusion: Physiotherapy management in patients with claw hand e.c. multi-bacillary morbus hansen in the form of active exercise therapy, strengthening exercise and functional exercise obtained the results of increased muscle strength even though it was not significant, showed a decrease in pain, in the measurement of nerve thickening there was no change, motor nerve function and functional hand measurements there was an increase even though it was not significant.

Human split hand/foot variants are not as functional as wildtype human PRDM1in the rescue of craniofacial defects.

Split hand/foot malformation (SHFM) is a congenital limb disorder presenting with limb anomalies, such as missing, hypoplastic, or fused digits, and often craniofacial defects, including a cleft lip/palate, microdontia, micrognathia, or maxillary hypoplasia. We previously identified three novel variants in the transcription factor, PRDM1, that are associated with SHFM phenotypes. One individual also presented with a high arch palate. Studies in vertebrates indicate that PRDM1 is important for development of the skull; however, prior to our study, human variants in PRDM1 had not been associated with craniofacial anomalies. Using transient mRNA overexpression assays in prdm1a-/- mutant zebrafish, we tested whether the PRDM1 SHFM variants were functional and could lead to a rescue of the craniofacial defects observed in prdm1a-/- mutants. We also mined previously published CUT&RUN and RNA-seq datasets that sorted EGFP-positive cells from a Tg(Mmu:Prx1-EGFP) transgenic line that labels the pectoral fin, pharyngeal arches, and dorsal part of the head to examine Prdm1a binding and the effect of Prdm1a loss on craniofacial genes. The prdm1a-/- mutants exhibit craniofacial defects including a hypoplastic neurocranium, a loss of posterior ceratobranchial arches, a shorter palatoquadrate, and an inverted ceratohyal. Injection of wildtype (WT) hPRDM1 in prdm1a-/- mutants partially rescues the palatoquadrate phenotype. However, injection of each of the three SHFM variants fails to rescue this skeletal defect. Loss of prdm1a leads to a decreased expression of important craniofacial genes by RNA-seq, including emilin3a, confirmed by hybridization chain reaction expression. Other genes including dlx5a/dlx6a, hand2, sox9b, col2a1a, and hoxb genes are also reduced. Validation by real-time quantitative PCR in the anterior half of zebrafish embryos failed to confirm the expression changes suggesting that the differences are enriched in prx1 expressing cells. These data suggest that the three SHFM variants are likely not functional and may be associated with the craniofacial defects observed in the humans. Finally, they demonstrate how Prdm1a can directly bind and regulate genes involved in craniofacial development.