Ustekinumab in psoriasis: Five‐year real life experience from a single tertiary centre

The efficacy and safety of ustekinumab have been demonstrated in randomized clinical trials; however, there are few real‐life data evaluating ustekinumab. This observational, retrospective follow‐up study included 33 patients with moderate to severe psoriasis vulgaris. Patients were > 18 years old and received at least 16 weeks of ustekinumab. The efficacy of treatment was evaluated as PASI50, PASI75, and PASI90 response rates at 16, 28, 52, 76, and 100 weeks. Side effects associated with ustekinumab were recorded. Of 33 patients, 24 (72.7%) had received 45 mg ustekinumab and 9 (27.3%) 90 mg ustekinumab. At the 16th week of the treatment, 97% of the patients had PASI50, 57.6% had PASI75, and 33.3% had PASI90 response rates. At 16, 28, 52, 76, and 100 weeks, PASI50, 75, and 90 responses were generally higher in naive to biologics and in the 45 mg group than in nonnaive to biologics and in the 90 mg group but the differences were not statistically significant. In conclusion, ustekinumab is an effective and safe treatment option for patients with moderate to severe psoriasis vulgaris. It seems to be more effective in naive to biologics and patients with normal weight.     

Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome)

White‐Sutton syndrome (WHSUS) is a recently‐identified genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ. Thus far, over 50 individuals have been reported worldwide, however phenotypic characterization and data regarding the natural history are still incomplete. Here we report the clinical features of 22 individuals with 21 unique loss of function POGZ variants. We observed a broad spectrum of intellectual disability and/or developmental delay with or without autism, and speech delay in all individuals. Other common problems included ocular abnormalities, hearing loss and gait abnormalities. A validated sleep disordered breathing questionnaire identified symptoms of obstructive sleep apnea in 4/12 (33%) individuals. A higher‐than‐expected proportion of cases also had gastrointestinal phenotypes, both functional and anatomical, as well as genitourinary anomalies. In line with previous publications, we observed an increased body mass index (BMI) z‐score compared to the general population (mean 0.59, median 0.9; p 0.0253). Common facial features included microcephaly, broad forehead, midface hypoplasia, triangular mouth, broad nasal root and flat nasal bridge. Analysis of the Baylor Genetics clinical laboratory database revealed that POGZ variants were implicated in approximately 0.14% of cases who underwent clinical exome sequencing for neurological indications with or without involvement of other body systems. This study describes a greater allelic series and expands the phenotypic spectrum of this new syndromic form of intellectual disability and autism.     

Evaluation of Cutaneous Findings in Children and Adolescents with Attention Deficit Hyperactivity Disorder: A Preliminary Study

Attention deficit hyperactivity disorder (ADHD) is characterized by attention, concentration, mobility, and impulse control problems and is among the most frequently seen psychiatric disorders during childhood. Our aim was to evaluate cutaneous findings in children and adolescents with ADHD. In our study we found that onychophagy, traumatic skin changes, atopy and related symptoms, certain birthmarks, and acne were frequent cutaneous findings in children with ADHD. Although a limitation is the lack of a control group, ADHD is very common, and our study suggests that further studies of cutaneous findings and ADHD are warranted.     

Prevalence of gastroesophageal reflux disease in patients with asthma and chronic obstructive pulmonary disease

Background and Aim: It is speculated that the prevalence of gastroesophageal reflux disease (GERD) might increase with asthma or chronic obstructive pulmonary disease (COPD). The aim of the present study was to evaluate the prevalence of GERD in patients with asthma and COPD in an area representative of developing countries. Methods: A validated GERD questionnaire was conducted face‐to‐face with 308 consecutive asthma (240 women) and 133 COPD (35 women) patients in the tertiary referral pulmonary outpatient clinic, and 694 controls from the research area. Detailed histories of patients and pulmonary function tests were also recorded. Results: The prevalence of GERD (heartburn/regurgitation once a week or more) was 25.4%, 17.0%, 19.4% and occasional symptoms (less than weekly) were 21.2%, 16.3% and 27.0% of patients with asthma, COPD and controls, respectively. The prevalence was higher in the asthma group compared with the controls and the COPD group. No significant difference was found between the COPD group and the controls. Heartburn started following pulmonary disease in 24.1% of the asthma group, and 26.4% of the COPD group. The majority of additional symptoms were significantly higher in asthmatics compared with the controls. No difference was found in the consumption of pulmonary medications in asthmatic patients in groups with different symptom frequency. Heartburn was increased 13.8% by the consumption of inhaler medications. Conclusions: These results implicate that the prevalence of GERD in asthma and COPD are lower than in published reports in a tertiary referral center. These differences might be related to the characteristics of developing countries, increased consumption of powerful medications in GERD and pulmonary diseases, or methodological flaws in earlier studies.     

Hydatid cyst: an unusual solid breast mass

Breast involvement of the hydatid cyst is very rare, and it accounts for 0.27% of all cases. Cases reported in the literature are generally about various cystic and calcified forms, but the solid form of hydatid cyst in the breast is quite rare. It is difficult to differentiate the breast's malignant and benign lesions from this form of hydatid cyst by imaging methods. Therefore, we aimed to present the mammographical and sonographic findings of a 50-year-old woman patient consulted to our mammography unit of whom we determined a Breast Imaging–Reporting and Data System class 4 solid lesion in the right breast and come out as hydatid cyst pathologically.