De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.

BACKGROUND: Say-Barber-Biesecker-Young-Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial features, and intellectual disability with multiple congenital anomalies, including skeletal involvement, missing, or underdeveloped kneecaps, and genital anomalies, in affected males. It has been shown that mutations in the KAT6B gene, which is a lysine acetyltransferase-encoding gene, have been associated with SBBYS syndrome. All the known variants are dominant de novo mutations that result in protein truncation. CASE PRESENTATION: A 14-year-old Iranian Azeri boy with an intellectual disability, distinct dysmorphic facial features such as open-mouth expression, sparse medial eyebrows, widely spaced upward-slanted eyes, epicanthal folds, broad nasal bridge, low-set ears, anteverted ears, short philtrum, hypertelorism, microphthalmia is presented in this case study. Cryptorchidism was reported. Neurologically, the patient presented with poor eye contact, hypotonia, and speech difficulties. In the skeletal X-ray, underdeveloped kneecaps with some new features were observed. CONCLUSION: We present the first case of SBBYS syndrome in association with some new anomaly features in the Iranian population. Based on this diagnosis, we could provide the patient with a suitable plan of management as well as appropriate genetic counseling for his family.

Chest computed tomography severity score is a reliable predictor of mortality in patients with chronic obstructive pulmonary disease co-infected with COVID-19.

BACKGROUND: Coronavirus disease 2019 (COVID-19) pandemic is considered a global health crisis. The data related to chronic obstructive pulmonary disease (COPD) patients with COVID-19 are incomplete, especially the findings of the chest computed tomography (CT). The aim of the current study was to investigate the severity of the disease of COVID-19 in patients with COPD based on CT severity score and to evaluate its predictive power in the mortality of patients. METHODS: In a retrospective study, demographic, clinical, and CT scan findings of COPD patients with COVID-19 were extracted from March 2020 to February 2022. CT severity score was determined based on the extent and nature of involvement of lungs in CT scan findings. By performing receiver operating characteristics (ROC) and Kaplan-Meier survival analysis were determined the disease severity and survival probability. RESULTS: The most frequent radiological findings in chest CT scan included ground glass opacities (89.3%), consolidations (51.8%), crazy-paving pattern (46.4%), and septal thickening (35.7%). The mean CT severity score of deceased patients (34.61 ± 18.73) was significantly higher than recovered patients (16.71 ± 14.01, p < 0.001). Based on the ROC and Kaplan-Meier survival curves, it was revealed that CT severity score was a valuable criteria in the diagnosis of mortality in COPD patients with COVID-19. CONCLUSION: The findings of this study revealed that the CT severity scoring in COPD patients with COVID-19 was valuable in identifying poor prognosis, although further studies are needed.

Idiopathic CRMO and MEFV Gene Variant Alleles: Is There Any Relationship?

BACKGROUND AND OBJECTIVE: CRMO is an inflammatory disease of bone that occurs more often in children. The clinical manifestations are intermittent fever, pain, and bone lesions, especially in long bones. Although there is an idiopathic type of disease, it is usually associated with some autoimmune disorders. This study evaluates MEFV gene mutations as background pathology of idiopathic CRMO. METHODS: Blood samples of patients, who diagnosed as childhood idiopathic CRMO by imaging and pathologic study from June 2011 until September 2018, have been screened for the 12 common pathogenic variants of MEFV gene mutations. RESULT: Nine patients enrolled in this study, and eight of them were male. The most common involvement locations were tibia and femur, and the least ones were zygoma, calcaneus, and radius. The mean duration of the involvement was 1.3 years. Six patients had only 1 involved location, 2 patients showed two sites of involvement, and one patient had three affected areas. There were two positive MEFV gene mutations (22%), as E148Q/wt and K695R/wt both in the heterozygote form. There was no meaningful relationship between MEFV gene mutations and the age of onset, gender, and location of involvement. Patients with positive mutation had more involved sites and long duration of involvement significantly. CONCLUSION: There is no significant immunopathogenic relationship between the common MEFV gene variant alleles and CRMO disease.

The diagnostic value of ultrasound compared with nerve conduction velocity in carpal tunnel syndrome.

OBJECTIVE: Carpal tunnel syndrome (CTS) is the most common form of peripheral entrapment neuropathy. The use of sonography for investigation and diagnosis of musculoskeletal conditions has been rapidly increasing over the past few decades. The purpose of this study was to determine whether sonography can be an alternative method to nerve conduction study (NCS) in the diagnosis of CTS. METHODS: Individuals with electrodiagnostically proven CTS and healthy control subjects were enrolled prospectively. Median nerve cross-sectional area (CSA) and flattening ratio (FR) at three different levels, proximal to tunnel inlet, at tunnel inlet and tunnel outlet, and flexor retinaculum thickness, were measured. Then, comparisons between ultrasonography and NCS were made. RESULTS: We assessed 180 wrists, of which 120 were electrophysiologically confirmed as CTS diseased hands and 60 nondiseased hands in 90 patients (83 women and seven men). The mean median nerve CSA at the tunnel inlet was 13.31 ± 3.23 mm(2) in CTS diseased hands and 8.57 ± 0.82 mm(2) in nondiseased hands. Post hoc comparisons between the diseased and nondiseased hands demonstrated that the CSA at various levels of the median nerve were significantly greater in the CTS diseased hands than the nondiseased hands (P = 0.001). CSA at the tunnel inlet with a threshold of 9.15 mm(2) gave the best diagnostic accuracy with a sensitivity and specificity of 99.2% and 88.3%, respectively. The difference in cross-sectional area of the median nerve in mild, moderate and severe CTS was statistically significant. CONCLUSION: Ultrasonographic measurement of the CSA of the median nerve at the carpal tunnel inlet is useful in diagnosing and grading CTS.

The diagnostic accuracy of high resolution ultrasound imaging for detection of secondary hyperparathyroidism in patients with chronic renal failure.

Ultrasound is one of the preferred modalities for evaluation of the parathyroid glands. This study was undertaken to determine the accuracy of high resolution ultrasound for secondary hyperparathyroidism in patients with chronic renal failure. From March 2008 to March 2009, ninety-one hemodialysis patients were examined by high resolution ultrasound (14 MHz) of the parathyroid glands in comparison to parathyroid hormone level. 43.9% of patients showed enlarged parathyroid glands with an average of 8.7 mm. The mean parathyroid hormone level of patients with enlarged parathyroid glands on sonography was 503 ± 450 pg/ml. We observed a significant correlation between parathyroid hormone level and enlarged parathyroid glands (P<0.0001). Sensitivity and specificity of sonography for detection of secondary hyperparathyroidism were 62.5% and 85.7% respectively. In conclusion, our study showed that high resolution sonography is a useful noninvasive method for the evaluation of secondary hyperparathyroidism in patients on hemodialysis and that sonographically enlarged glands may be a measure of severity of secondary hyperparathyroidism.

Rhinosinusitis predispose asthmatic patients to severe bronchial asthma.

In this study, we evaluated the relationship between rhinosinusitis to the severity of asthma in asthmatic patients.This cross-sectional study was conducted on 90 patients with asthma referring to Imam Khomeini Hospital in Ardabil city. Asthma control stepping method was used for staging of asthma severity. Patients' clinical signs and paraclinical findings were individually evaluated and compared with particular attention to the presence or absence of rhinosinusitis. Chi square and t-test were used to analyze the data in SPSS15 software.Rhinosinusitis was found in 66 (73%) of the 90 patients. The Forced Expiratory Volume in 1 second (FEV1) was significantly lower in the patients who also had rhinosinusitis (P=0.002).Comparing severity of asthma, most of the patients with rhinosinusitis were in stage3 (42.4%) but most of the patients without rhinosinusitis were in stage1 (41.6%) (p=0.002).The results of this study confirm the correlation between asthma severity and rhinosinusitis in asthmatic patients. Therefore, in diagnosing asthma in patients, the possibility of the rhinosinusitis should be determined and treated.