RESUMO
Familial glucocorticoid deficiency is caused by variants in the MC2R and MRAP genes. We report an Iranian patient with congenital glucocorticoid deficiency and cholestasis due to pathogenic variants in the MC2R gene. This is the first documented case of a patient with conditions. Clinical evaluations and lab assessments were conducted on a six-month-old male infant. Next-generation sequencing identified the genetic causes of the disease, and Sanger sequencing confirmed the variants through segregation analysis. The clinical presentation included prolonged jaundice, progressive skin hyperpigmentation, seizures, fever, and a large umbilical hernia. Two variants in the MC2R gene, c.560delT and c.676G > C, were detected and classified as pathogenic and likely pathogenic, respectively. The cooccurrence of cholestasis and glucocorticoid deficiency illustrates the clinical heterogeneity caused by MC2R variants. The prevalence of c.560delT and c.676G > C between Iranian populations suggests these variants may be common. The high frequency of c.560delT could be attributed to a founder effect.
RESUMO
BACKGROUND: Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 gene. METHODS: Clinical evaluations were performed along with genetic testing using whole exome sequencing (WES). The variant analysis including pathogenicity prediction was also done using bioinformatics tools. RESULTS: The chief compliant of the patient was short stature and lack of proper weight gain. Other symptoms were developmental delay, learning disability, inadequate speech skill, broad forehead, hypertelorism, and epicanthal folds, low set ears and webbed neck. A small deletion, c.4375-4377delGAA, was found in NF1 gene using WES. This variant was classified as pathogenic according to ACMG. CONCLUSIONS: NF1 variants may show variable phenotypes among the patients; identifying such variants is helpful in therapeutic management of the disease. WES is considered as an appropriate test to diagnose Neurofibromatosis-Noonan syndrome.
Assuntos
Neurofibromatoses , Neurofibromatose 1 , Síndrome de Noonan , Humanos , Genes da Neurofibromatose 1 , Irã (Geográfico) , Mutação , Neurofibromatoses/diagnóstico , Neurofibromatoses/genética , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Neurofibromatose 1/patologia , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Feminino , CriançaRESUMO
We estimated mortality and economic loss attributable to PM2·5 air pollution exposure in 429 counties of Iran in 2018. Ambient PM2.5-related deaths were estimated using the Global Exposure Mortality Model (GEMM). According to the ground-monitored and satellite-based PM2.5 data, the annual mean population-weighted PM2·5 concentrations for Iran were 30.1 and 38.6 µg m-3, respectively. We estimated that long-term exposure to ambient PM2.5 contributed to 49,303 (95% confidence interval (CI) 40,914-57,379) deaths in adults ≥ 25 yr. from all-natural causes based on ground monitored data and 58,873 (95% CI 49,024-68,287) deaths using satellite-based models for PM2.5. The crude death rate and the age-standardized death rate per 100,000 population for age group ≥ 25 year due to ground-monitored PM2.5 data versus satellite-based exposure estimates was 97 (95% CI 81-113) versus 116 (95% CI 97-135) and 125 (95% CI 104-145) versus 149 (95% CI 124-173), respectively. For ground-monitored and satellite-based PM2.5 data, the economic loss attributable to ambient PM2.5-total mortality was approximately 10,713 (95% CI 8890-12,467) and 12,792.1 (95% CI 10,652.0-14,837.6) million USD, equivalent to nearly 3.7% (95% CI 3.06-4.29) and 4.3% (95% CI 3.6-4.5.0) of the total gross domestic product in Iran in 2018.
Assuntos
Poluentes Atmosféricos , Poluição do Ar , Morte Perinatal , Adulto , Poluentes Atmosféricos/efeitos adversos , Poluentes Atmosféricos/análise , Poluição do Ar/efeitos adversos , Poluição do Ar/análise , Exposição Ambiental/efeitos adversos , Exposição Ambiental/análise , Feminino , Produto Interno Bruto , Humanos , Irã (Geográfico)/epidemiologia , Material Particulado/efeitos adversos , Material Particulado/análiseRESUMO
Purpose: The aim of this study was to investigate the association between the psychological distress and sleep problems with environmental noise annoyance in adult population. Methods: This is a cross-sectional study on 822 adult population of Tehran City in 2016. Integrated cluster stratified random sampling and Kish grid method were used. Noise annoyance, the day-night average sound level (Ldn), nighttime average sound level (Lnight), and daytime average sound level (Lday) were selected as noise exposure indicators. The prevalence of psychological distress and sleep problems were assessed using the Kessler Psychological Distress Scale (K10) and the PSQI questionnaire, respectively. Multiple logistic regression analysis was applied for data analysis. Results: Among the participants 46.03%% were exposed to a sound level higher than the daytime standard level (55 dB) and 84.6% were exposed to a level higher than the nighttime standard limit (45 dBA). According to the results, 49% of the subjects had poor sleep quality and 66% were highly sensitive to noise. In addition, 17.73% had a high risk of mental disorders and 16.48% were found to have a mild risk of mental disorders. There was found a statistically significant association between psychological distress and the noise annoyance at home (OR = 1.3 CI 95% (1.17-1.44)) and at work environment (OR = 1.18 CI 95% (1.08-1.28)). Conclusion: The findings indicated that the study population was highly sensitive to noise. In addition, the relatively high percentage of people who exposed to non-standard levels of sound indicates that this exposure has the potential to cause physical and mental consequences among them.
RESUMO
PURPOSE: To investigate the success rate and surgical dose responses in strabismus surgery of thyroid-associated ophthalmopathy (TAO). METHODS: Thirty-three patients (26 men) were included in this study and underwent strabismus surgery. The mean follow-up time was 11.3 ± 6.5 months. Success was defined as the proportion of patients with a horizontal deviation of less than 10 PD, vertical deviation of less than 4 PD, and no subjective diplopia in primary and downgaze. RESULTS: After the final follow-up visit, strabismus surgery was successful in 87.8% of patients. Pre-operative factors (age, gender, smoking, corticosteroid usage, radioactive iodine, orbital decompression, optic neuropathy, baseline deviations, extorsion, type of strabismus, TAO duration) were not statistically correlated with success. Dose responses were calculated to be 3.44 ± 0.66 PD/mm of medial rectus recession and 4.83 ± 1.48 PD/mm for vertical rectus recession. Patients with deviation ≥25 PD had significantly larger surgical dose response compared to the group with deviation<25 PD (p value = .003 for horizontal and p-value <0.05 for vertical deviations). In eyes with predominant hypotropia, we found 1.64 ± 1.37 PD decrease in esotropia for each millimeter recession of inferior rectus muscle. CONCLUSIONS: Surgical dose responses in large deviations were significantly higher than the moderate angle of deviation. The reported mean for vertical dose responses may vary in different patients based on the laterality and involvement of superior rectus muscles. The recession of inferior rectus muscle may correct mild-to-moderate esotropia without the need for horizontal muscle surgery.
Assuntos
Oftalmopatia de Graves/cirurgia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Estrabismo/cirurgia , Adulto , Idoso , Biometria , Diplopia/fisiopatologia , Feminino , Seguimentos , Oftalmopatia de Graves/diagnóstico por imagem , Oftalmopatia de Graves/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Músculos Oculomotores/diagnóstico por imagem , Músculos Oculomotores/fisiopatologia , Estudos Retrospectivos , Estrabismo/diagnóstico por imagem , Estrabismo/fisiopatologia , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
The therapeutic effects of the olibanum, the resin of Boswellia serrata on inflammatory diseases have been reported. There are more than 200 active ingredients in this resin including acetyl-11-keto-ß-boswellic acid (AKBA). We proposed that AKBA can improve memory impairment induced by cerebral inflammation following the administration of lipopolysaccharide (LPS). Forty male rats were grouped and received the following treatments: Control (diluted DMSO + saline), LPS (diluted DMSO + 1 mg/kg LPS), LPS- AKBA 5 and LPS- AKBA 10 (5 or 10 mg/ kg AKBA before LPS). Morris water maze (MWM), passive avoidance (PA) and biochemical tests were carried out. Pre-treatment with both doses of AKBA improved memory performance in MWM and PA tests (P < 0.05 to P < 0.001). Pre-treatment by AKBA improved the levels of hippocampal IL-10 (P < 0.001), BDNF (P < 0.001), CAT (P < 0.05 and P < 0.001), SOD P < 0.001 and thiols (P < 0.01 and P < 0.001) while reduced IL-6 (P < 0.001), TNF-α (P < 0.001), NO (P < 0.05 and P < 0.001), GFAP (P < 0.001) and MDA (P < 0.001) levels. AKBA effectively ameliorated LPS-induced learning and memory impairments and improved BDNF in a neuroinflammation animal model. The effects seem to be due to setting a positive balance between pro-inflammatory to inflammatory cytokines and reinvigorate the antioxidant system.
Assuntos
Citocinas/metabolismo , Hipocampo/efeitos dos fármacos , Memória/efeitos dos fármacos , Triterpenos/farmacologia , Animais , Aprendizagem da Esquiva/efeitos dos fármacos , Fator Neurotrófico Derivado do Encéfalo/metabolismo , Proteína Glial Fibrilar Ácida/metabolismo , Hipocampo/metabolismo , Mediadores da Inflamação/metabolismo , Lipopolissacarídeos/toxicidade , Masculino , Teste do Labirinto Aquático de Morris , Estresse Oxidativo/efeitos dos fármacos , Ratos WistarRESUMO
PURPOSE: A comprehensive review in congenital cataract management can guide general ophthalmologists in managing such a difficult situation which remains a significant cause of preventable childhood blindness. This review will focus on surgical management, postoperative complications, and intraocular lens (IOL)-related controversies. METHODS: Electrical records of PubMed, Medline, Google Scholar, and Web of Science from January 1980 to August 2017 were explored using a combination of keywords: "Congenital", "Pediatric", "Childhood", "Cataract", "Lens opacity", "Management", "Surgery", "Complication", "Visual rehabilitation", and "Lensectomy". A total number of 109 articles were selected for the review process. RESULTS: This review article suggests that lens opacity obscuring the red reflex in preverbal children and visual acuity of less than 20/40 is an absolute indication for lens aspiration. For significant lens opacity that leads to a considerable risk of amblyopia, cataract surgery is recommended at 6 weeks of age for unilateral cataract and between 6 and 8 weeks of age for bilateral cases. The recommended approach in operation is lens aspiration via vitrector and posterior capsulotomy and anterior vitrectomy in children younger than six years, and IOL implantation could be considered in patients older than one year. Most articles suggested hydrophobic foldable acrylic posterior chamber intraocular lens (PCIOL) for pediatrics because of lower postoperative inflammation. Regarding the continuous ocular growth and biometric changes in pediatric patients, under correction of IOL power based on the child's age is an acceptable approach. Considering the effects of early and late postoperative complications on the visual outcome, timely detection, and management are of a pivotal importance. In the end, the main parts of post-operation visual rehabilitation are a refractive correction, treatment of concomitant amblyopia, and bifocal correction for children in school age. CONCLUSIONS: The management of congenital cataracts stands to challenge for most surgeons because of visual development and ocular growth. Children undergoing cataract surgery must be followed lifelong for proper management of early and late postoperative complications. IOL implantation for infants less than 1 year is not recommended, and IOL insertion for children older than 2 years with sufficient capsular support is advised.
RESUMO
Ambient air pollution represents one of the biggest environmental risks to health. In this study, we estimated the avoidable mortality burden attributable to ambient air pollution in Tehran, and derived the economic impact associated with these health effects. Using PM2.5 data from ground-level air pollution measurements in Tehran, we estimated PM2.5 exposure for 349 neighborhoods in Tehran, by the Environmental Benefits Mapping and Analysis Program (BenMAP-CE). We considered five scenarios related to PM2.5 levels: an increase to 35⯵g/m3; a reduction to 25⯵g/m3; a reduction to 15⯵g/m3; a reduction to 10⯵g/m3 (the WHO's air quality guideline value); and a full roll-back, assuming a reduction to 2.4⯵g/m3. All scenarios used 2017 p.m.2.5 levels as a starting point. Using the concentration response function of the Global Exposure Mortality Model (GEMM), we estimated a total of 7146 (95% CI: 6596-7513) adult (age ≥25 years) deaths attributable to PM2.5 in 2017. The leading causes of death were ischemic heart disease (3437; 95% CI: 3315-3516), stroke (886; 95% CI: 693-1002), lower respiratory infections (531: 95% CI: 414-589), chronic obstructive pulmonary disease (364; 95% CI: 271-420), and lung cancer (274; 95% CI: 236-298). The estimated total annual economic benefit (2017) of reducing PM2.5 concentration levels to 2.4⯵g/m3 was USD 0.591 (95% CI: 0.447-0.624) billion per year, using the value of a life year (VOLY) approach, and USD 2.894 (95% CI: 2.671-3.043) billion per year, using the value of a statistical life (VSL) approach.
Assuntos
Poluição do Ar/estatística & dados numéricos , Efeitos Psicossociais da Doença , Exposição Ambiental/estatística & dados numéricos , Adulto , Poluentes Atmosféricos , Exposição Ambiental/economia , Humanos , Irã (Geográfico) , Material Particulado , Doença Pulmonar Obstrutiva CrônicaRESUMO
PURPOSE: To evaluate the effect of inferior turbinate fracture in the treatment of congenital nasolacrimal obstruction combined with first attempt probing in children younger than 36 months. METHODS: This prospective case-control study was conducted on 230 eyes from 176 children aged 12 to 36 months with congenital nasolacrimal duct obstruction. All patients underwent simple probing under general anesthesia. Inferior turbinate fracture was performed in case group combined with first probing. Patients were followed up 1, 3, and 6 months after surgery. RESULTS: Total success rate was 91.2% for patients with turbinate fracture and 86.4% for patients without turbinate fracture. The difference between success rates was not statistically significant (p = 0.269). The authors did not find significant difference between cases and controls in age subgroups. Success rate in combined case and control groups in patients younger than 24 months (success rate: 91.7%) was significantly higher than those older than 24 months (success rate: 71.9%; p = 0.001). In univariate logistic regression analysis, age ≥24 months showed a negative association with the success rate (odds ratio = 0.232; 95% confidence interval: 0.91-0.59; p = 0.002). Other factors like sex, bilaterality of nasolacrimal duct obstruction, method of probing were not significantly associated with response to treatment. CONCLUSIONS: Inferior turbinate fracture does not improve the outcomes of simple probing and is not recommended during the first attempt in treatment of congenital nasolacrimal duct obstruction. Late probing (after 24 months of age) may have a higher failure rate, and increased age is the important factor that predicts failure in probing simple congenital nasolacrimal duct obstruction.
Assuntos
Dacriocistorinostomia/métodos , Obstrução dos Ductos Lacrimais/congênito , Ducto Nasolacrimal/cirurgia , Fraturas Cranianas , Conchas Nasais/cirurgia , Estudos de Casos e Controles , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Obstrução dos Ductos Lacrimais/diagnóstico , Masculino , Ducto Nasolacrimal/diagnóstico por imagem , Estudos Prospectivos , Resultado do Tratamento , Conchas Nasais/diagnóstico por imagemRESUMO
PURPOSE: To evaluate the surgical outcomes in patients with acquired nonaccommodative esotropia operated on based on a short prism adaptation test (PAT) and to determine the subgroup of patients most responsive to PAT. METHODS: In this prospective interventional cases series, patients with acquired nonaccommodative esotropia were enrolled. Patients wore Fresnel trial lenses based on the results of alternate prism-cover testing. With the Fresnel prism in place, alignment was measured after 20 minutes. If deviation increased, the power of prism was increased to neutralize this angle. The test was repeated every 20 minutes to achieve motor stability. Patients were classified as either prism responders (if the angle of deviation increased >10Δ compared to the entry angle) or prism nonresponders. All patients underwent bilateral medial rectus muscle recession. Prism responders underwent surgical correction based on the enhanced angle. RESULTS: Of the 28 subjects enrolled, 14 (50%) were prism responders and 14 (50%) were classified as prism nonresponders. After 6 months, 100% of prism responders and 92.9% of nonresponders were aligned within 8Δ of orthotropia at distance and near fixation. None of the patients with an entry angle of >30Δ were prism responders. CONCLUSIONS: In our study cohort, a short PAT with an endpoint of motor stability in patients with acquired nonaccommodative esotropia was associated with a good surgical outcome and a low rate of over- and undercorrection. PAT may be unnecessary for patients with an angle of deviation of >30Δ.
Assuntos
Adaptação Ocular/fisiologia , Esotropia/cirurgia , Movimentos Oculares/fisiologia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Adolescente , Criança , Pré-Escolar , Esotropia/fisiopatologia , Óculos , Feminino , Humanos , Masculino , Procedimentos Cirúrgicos Oftalmológicos/métodos , Estudos Prospectivos , Curva ROCRESUMO
OBJECTIVES: To report the clinical outcomes of a new modification to muscle belly union surgery in heavy eye syndrome. METHODS: Muscle belly union was performed in patients with large-angle esotropia and characteristic findings of heavy eye syndrome on orbital imaging. After isolation of superior and lateral rectus muscle and passing a single armed suture in each muscle belly, approximation was achieved via tying of both arms of separate sutures together. Medial rectus (MR) was also recessed considering the results of the intraoperative force duction test. RESULTS: Surgery was conducted in 24 eyes of 16 patients. The mean preoperative esotropia was 93.71 ± 23.1 prism diopters (PD), which improved significantly after the operation (final esotropia: 11.53 ± 15.59 PD, P value = 0.001). Six patients also exhibited mild hypotropia preoperatively (9.33 ± 6.88 PD), which resolved completely after surgery in all cases. Evaluation of preoperative abduction limitation (minus 3.1 ± 1.83) showed a significant improvement postoperatively (minus 0.95 ± 0.68, P value = 0.000). Additionally, mild limitation of adduction (minus 1) was seen in nine patients due to large MR recession. However, none of the patients reported postoperative diplopia. CONCLUSION: Our new approach in muscle belly union surgery resulted in favorable outcomes compared with previous studies. It seems that the two-suture technique presented in this study yields more convenient approximation of muscle bellies and acts as a safety suture upon spontaneous loosening of the first applied suture.
Assuntos
Esotropia/cirurgia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Adulto , Idoso , Comprimento Axial do Olho/patologia , Esotropia/diagnóstico por imagem , Esotropia/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miopia Degenerativa/complicações , Músculos Oculomotores/diagnóstico por imagem , Músculos Oculomotores/fisiopatologia , Estudos Retrospectivos , Técnicas de Sutura , Síndrome , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
PURPOSE: To evaluate the outcome of additional KeraRing (Mediphacos, Belo Horizonte, Brazil) implantation in patients with keratoconus with previously implanted INTACS (Addition Technology Inc, Fremont, CA) segments. METHODS: The KeraRing was implanted in 5 eyes of 3 patients with keratoconus without removal of previous intrastromal corneal ring segments. Tunnels were created manually. Snellen uncorrected distance visual acuity (UDVA), corrected distance visual acuity, refractive and keratometric values, and higher-order aberrations were recorded before and after KeraRing implantation. RESULTS: UDVA, corrected distance visual acuity, subjective refraction, and keratometric values were improved in 4/5 of cases and remained stable during a median follow-up of 36 months. UDVA improved from 20/200 and 20/100 to 20/100 and 20/40 in the right and left eyes of patient 1, respectively, and from 20/200 to 20/40 in both eyes of patient 2. The reduction in mean keratometric value was 2.1 and 4.4 D in the right and left eyes of patient 1, and 1.4 and 1.9 D in the right and left eyes of patient 2, respectively. In patient 3, UDVA (20/100) and mean keratometric value (52.4) remained unchanged after second intrastromal corneal ring segment implantation. Total higher-order aberrations were improved in all cases. No intraoperative or postoperative complication was observed. However, one of the cases reported glare under scotopic conditions. CONCLUSIONS: KeraRing implantation in properly selected eyes with previously implanted INTACS could enhance final visual and refractive outcomes.
Assuntos
Substância Própria/cirurgia , Ceratocone/cirurgia , Próteses e Implantes , Implantação de Prótese/métodos , Adulto , Topografia da Córnea , Aberrações de Frente de Onda da Córnea/patologia , Feminino , Humanos , Masculino , Refração Ocular/fisiologia , Acuidade VisualRESUMO
PURPOSE: We report a patient with abnormal head posture following ocular blunt trauma. METHODS: This is report of a case that despite findings compatible with diagnosis of left superior oblique (SO) palsy, the patient acquired an ipsilateral (left) head tilt. The interesting observation in our patient was reduction of left hypertropia and consequent less diplopia with ipsilateral head tilt. RESULTS: After blunt trauma, our patient adopted paradoxical left head tilt and consequently less diplopia despite acquired left SO palsy. Left inferior oblique myectomy resulted in significant improvement of patient's strabismus and abnormal head position. CONCLUSION: Traumatic SO palsy may present with paradoxical head tilt.