RESUMEN
âMulticentric osteolysis nodulosis and arthropathy (MONA) is an infrequently described autosomal recessive skeletal dysplasia characterized by progressive osteolysis and arthropathy. Inactivating mutations in MMP2, encoding matrix metalloproteinase-2, are known to cause this disorder. Fifteen families with mutations in MMP2 have been reported in literature. In this study we screened thirteen individuals from eleven families for MMP2 mutations and identified eight mutations (five novel and three known variants). We characterize the clinical, radiographic and molecular findings in all individuals with molecularly proven MONA from the present cohort and previous reports, and provide a comprehensive review of the MMP2 related disorders.
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Metaloproteinasa 2 de la Matriz/genética , Mutación/genética , Osteólisis/genética , Adolescente , Secuencia de Aminoácidos , Niño , Preescolar , Estudios de Cohortes , Femenino , Homocigoto , Humanos , Lactante , Recién Nacido , Masculino , Datos de Secuencia Molecular , Osteólisis/enzimología , Osteólisis/patología , Pronóstico , Homología de Secuencia de AminoácidoRESUMEN
Hand, foot, and mouth disease (HFMD) is one of the important public health problems. It has become a common childhood illness in our part of the country. In most instances, this is a mild self-limiting illness. The affected children are often given outpatient care. However, over the last decade, HFMD has emerged as a growing health problem in Asian countries following frequent outbreaks of deaths associated with HFMD caused by a more virulent member of human enterovirus (HEV), namely, HEV71. A hospital-based descriptive study about the clinical presentations and complications of HFMD at the hospitals of Shimoga city between March 2013 and August 2013 is documented and presented here. HFMD was more common in the 1-3-year old age group, with aseptic meningitis being the most common complication. Surveillance of HFMD must be maintained as there is no effective chemoprophylaxis or vaccine available.
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Purpose: To report the spectrum of posterior segment manifestations and visual outcomes in a large series of patients with systemic lupus erythematosus (SLE). Methods: Retrospective study at a tertiary referral eye center in south India between 2016 and 2022. Results: Charts of 109 patients diagnosed to have SLE were retrieved from our medical database. Only nine cases of SLE (8.25%) had posterior segment involvement. The male: female ratio was 1:8. The mean age was 28 years. Unilaterality was the most common presentation in eight cases (88.89%). Lupus nephritis was the most common systemic presentation in five cases (55.56%). Antiphospholipid antibodies (APLA) positivity was seen in two cases (22.22%). Ocular manifestations included microangiopathy (cotton wool spots) in one case, occlusive retinal vasculitis with cotton wool spots in four cases (five eyes), optic disc edema with combined venous and arterial occlusion (one case), central retinal vein occlusion with cotton wool spots and hemorrhages (one case), macular edema (four cases), posterior scleritis with optic disc edema and exudative retinal detachment in the posterior pole (one case), and tubercular choroidal granuloma (one case). Treatment included systemic steroids, hydroxychloroquine sulfate (HCQS), and immunosuppression in all cases, blood thinners in two cases, and laser photocoagulation in four cases. HCQS-related retinal toxicity was not seen in any of the 109 cases. Ocular manifestation was the initial presentation of SLE in one case. Visual outcome was poor in three cases. Conclusion: Presence of posterior segment findings in cases with SLE may suggest a severe systemic disease. Early detection and aggressive treatment result in better visual outcomes. Ophthalmologists could play a vital role in guiding systemic therapy.
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Oftalmopatías , Lupus Eritematoso Sistémico , Papiledema , Oclusión de la Vena Retiniana , Humanos , Masculino , Femenino , Adulto , Estudios Retrospectivos , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/terapiaRESUMEN
Purpose: To report the clinical profile of genetically proven Blau syndrome in seven cases from a single center in South India.Materials & Methods: Retrospective case seriesResults: There were four females and three males. All cases had a history of skin and joint involvement of varying severity. Flexion contractures of the proximal interphalangeal joints were seen in all cases except Case 2. Ocular involvement was bilateral and included keratoconjunctivitis sicca (six cases), granulomatous panuveitis (three cases), granulomatous anterior uveitis (three cases), conjunctival granulomas (three cases), subepithelial corneal opacities (one case), and subretinal granuloma (one case). Other ocular findings included band-shaped keratopathy (five cases) and cataract (three cases). All cases received oral steroids and methotrexate with an addition of mycophenolate mofetil in one case. Visual prognosis was good in all cases.Conclusions: Blau syndrome is underreported in India. This is the largest case series of genetically proven Blau syndrome from South India and highlights the clinical profile of Blau syndrome seen in India.
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Artritis/genética , Conjuntiva/diagnóstico por imagen , Córnea/diagnóstico por imagen , Queratoconjuntivitis Seca/etiología , Mutación , Proteína Adaptadora de Señalización NOD2/genética , Sarcoidosis/genética , Sinovitis/genética , Uveítis/genética , Agudeza Visual , Artritis/complicaciones , Artritis/diagnóstico , Niño , Preescolar , ADN/genética , Análisis Mutacional de ADN , Femenino , Humanos , India , Queratoconjuntivitis Seca/diagnóstico , Queratoconjuntivitis Seca/fisiopatología , Masculino , Proteína Adaptadora de Señalización NOD2/metabolismo , Estudios Retrospectivos , Sarcoidosis/complicaciones , Sarcoidosis/diagnóstico , Microscopía con Lámpara de Hendidura , Sinovitis/complicaciones , Sinovitis/diagnóstico , Uveítis/complicaciones , Uveítis/diagnósticoRESUMEN
OBJECTIVE: To develop and test shortened versions of the Manual Muscle Test-8 (MMT-8) in juvenile dermatomyositis (JDM). METHODS: Construction of reduced tools was based on a retrospective analysis of individual scores of MMT-8 muscle groups in 3 multinational datasets. The 4 and 6 most frequently impaired muscle groups were included in MMT-4 and MMT-6, respectively. Metrologic properties of reduced tools were assessed by evaluating construct validity, internal consistency, discriminant ability, and responsiveness to change. RESULTS: Neck flexors, hip extensors, hip abductors, and shoulder abductors were included in MMT-4, whereas MMT-6 also included elbow flexors and hip flexors. Both shortened tools revealed strong correlations with MMT-8 and other muscle strength measures. Correlations with other JDM outcome measures were in line with predictions. Internal consistency was good (0.88-0.96) for both MMT-4 and MMT-6. Both reduced tools showed strong ability to discriminate between disease activity states, assessed by the caring physician or a parent (P < 0.001), and between patients whose parents were satisfied or not satisfied with illness course (P < 0.001). Responsiveness to change (assessed by both standardized response mean and relative efficiency) of MMT-4 and, to a lesser degree, MMT-6, was slightly superior to that of MMT-8. CONCLUSION: Overall, the metrologic performance of MMT-4 and MMT-6 was comparable to that of the other established muscle strength tools, which indicates that they may be suitable for use in clinical practice and research, including clinical trials. The measurement properties of these tools should be further tested in other patient populations and evaluated prospectively.
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Dermatomiositis , Dermatomiositis/diagnóstico , Humanos , Fuerza Muscular , Músculo Esquelético , Músculos , Evaluación de Resultado en la Atención de Salud , Estudios RetrospectivosRESUMEN
OBJECTIVE: To formulate practice guidelines on diagnosis and management of Kawasaki disease (KD) for Indian children. JUSTIFICATION: KD is a systemic vasculitis that predominantly affects infants and children less than 5 years of age. Coronary artery abnormalities (CAA) develop in around 15-25% of untreated children with KD. Coronary artery involvement can lead to long-term cardiovascular implications such as development of premature coronary artery disease. Diagnosis of KD is essentially clinical based on recognition of a constellation of characteristic symptoms and signs. Timely diagnosis and initiation of intravenous immunoglobulin (IVIG) therapy is known to produce five-fold reduction in the incidence of CAA. As there is no confirmatory laboratory test for KD, the diagnosis may be missed if one is not familiar with the nuances of clinical diagnosis. PROCESS: A committee was formed under the auspices of Indian Academy of Pediatrics in early 2018 for preparing guidelines on KD in Indian children. A meeting of the consultative committee was held in Mumbai, and a draft protocol was devised. All members scrutinized the recent publications on the subject and an attempt was made to arrive at a broad consensus. Published guidelines on the subject were also reviewed. RECOMMENDATIONS: The diagnosis is clinical and is aided by laboratory and 2D echocardiography. First line of therapy is IVIG, and should be started expeditiously once the diagnosis is made.
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Síndrome Mucocutáneo Linfonodular , Pediatría , Niño , Ecocardiografía , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Lactante , Síndrome Mucocutáneo Linfonodular/diagnóstico , Síndrome Mucocutáneo Linfonodular/tratamiento farmacológico , Síndrome Mucocutáneo Linfonodular/epidemiología , Estudios RetrospectivosRESUMEN
A 13-year-old boy with a 4-year history of idiopathic pediatric uveitis and recurrent uveitic macular edema had failed conventional immunomodulatory therapy and presented to us with a vision of 6/24 [right eye (OD)] and 6/9 [left eye (OS)]. Fluorescein angiography showed diffuse vascular leakage along with cystoid macular edema (CME). Intravenous tocilizumab (10 mg/kg body) was given as 14 injections over 12 months. Repeat fluorescein angiography every 3 months showed a dramatic improvement in the vascular leakage and resolution of CME. At 13 months OF follow-up, vision had improved to 6/9p (OD) and 6/6(OS) with no recurrence of inflammation or CME.