Patients with chronic conditions and their complex care needs in a tertiary care hospital.

INTRODUCTION: Health care for children with complex chronic conditions (CCC) constitutes an evolving and a challenging part of practices in pediatrics. These children need end-of-life services such as palliative care. The aim of this study was to identify the frequency of patients with CCC among all hospitalized children at our general pediatrics services and to describe the demographics, diagnosis, clinical spectrum, long-term care needs, and mortality data of patients with CCC. PATIENTS AND METHODS: All hospitalizations in 2018 at the general pediatric services were screened retrospectively. Patients' hospitalization diagnoses, gender, age, comorbid conditions, number of emergency admissions in 2018, intensive care unit needs, mortality rates, and the number of hospitalizations in 2018 were investigated. RESULTS: A total of 1591 patients were hospitalized for 2083 times in 2018. Overall, 145 of 1591 patients (9%) had CCC. Patients with CCC were hospitalized for 472 times (23% of all hospitalizations). The number of emergency admissions, the number of hospitalizations in 2018 and the need for intensive care, and the mortality rate during hospitalization for patients with CCC were significantly higher than those for patients without CCC. The median length of hospitalization in patients with CCC was significantly longer. CONCLUSION: Patients with CCC were hospitalized frequently and longer, had increased emergency and PICU admissions, and special long-term care needs. Pediatricians who pioneer care for children with CCC need education, training, and coordinated support to ensure qualified long-term care for these patients.

Significance of the Tks4 scaffold protein in bone tissue homeostasis.

The main driver of osteoporosis is an imbalance between bone resorption and formation. The pathogenesis of osteoporosis has also been connected to genetic alterations in key osteogenic factors and dysfunction of bone marrow mesenchymal stem/stromal cells (BM-MSCs). Tks4 (encoded by the Sh3pxd2b gene) is a scaffold protein involved in podosome organization. Homozygous mutational inactivation of Sh3pxd2b causes Frank-ter Haar syndrome (FTHS), a genetic disease that affects bone tissue as well as eye, ear, and heart functions. To date, the role of Tks4 in adult bone homeostasis has not been investigated. Therefore, the aim of this study was to analyze the facial and femoral bone phenotypes of Sh3pxd2b knock-out (KO) mice using micro-CT methods. In addition to the analysis of the Sh3pxd2b-KO mice, the bone microstructure of an FTHS patient was also examined. Macro-examination of skulls from Tks4-deficient mice revealed craniofacial malformations that were very similar to symptoms of the FTHS patient. The femurs of the Sh3pxd2b-KO mice had alterations in the trabecular system and showed signs of osteoporosis, and, similarly, the FTHS patient also showed increased trabecular separation/porosity. The expression levels of the Runx2 and osteocalcin bone formation markers were reduced in the bone and bone marrow of the Sh3pxd2b-KO femurs, respectively. Our recent study demonstrated that Sh3pxd2b-KO BM-MSCs have a reduced ability to differentiate into osteoblast lineage cells; therefore, we concluded that the Tks4 scaffold protein is important for osteoblast formation, and that it likely plays a role in bone cell homeostasis.

Network on veterinary medicines initiated by the European Federation For Pharmaceutical Sciences.

The European Federation for Pharmaceutical Sciences (EUFEPS) was founded 25 years ago by more than 20 national pharmaceutical societies and faculty members. As a pan-European organization, it brings together pharmaceutical societies as well as academic, industrial and regulatory scientists engaged in drug research and development, drug regulation and education of professionals working in these fields. EUFEPS represents pharmaceutical sciences in Europe and is recognized as such by both the European Commission and the European Medicines Agency. EUFEPS cooperates with the European Federation of Pharmaceutical Industries and other European organizations and maintains global connections with agencies such as the US Food and Drug Administration and the American Association of Pharmaceutical Scientists. EUFEPS has established specified networks forming the basis of its activities. The creation of a Network on Veterinary Medicines is prompted by the manifold problems resulting from the use of veterinary drugs and its inherent interconnections with human medicine, environmental and public health. A long-term goal of this initiative was to expand the spectrum of available therapeutics for use in animals, including the development of innovative delivery systems.

Frank-ter Haar syndrome--additional findings?

Frank-ter Haar syndrome is a genetic disease that is transmitted by autosomal recessive pattern with characteristic features such as megalocornea or glaucoma, a prominent coccyx, heart defects, developmental delays, brachycephaly, a wide anterior fontanel, finger flexion deformities, full cheeks and micrognathia. Dentomaxillofacial features of this syndrome are not well documented in the literature. We present of a 21-year-old male with Frank-ter Haar syndrome and some features that may be linked with this syndrome not reported before in the literature.

microRNA regulation of Wnt signaling pathways in development and disease.

Wnt signaling pathways and microRNAs (miRNAs) are critical regulators of development. Aberrant Wnt signaling pathways and miRNA levels lead to developmental defects and diverse human pathologies including but not limited to cancer. Wnt signaling pathways regulate a plethora of cellular processes during embryonic development and maintain homeostasis of adult tissues. A majority of Wnt signaling components are regulated by miRNAs which are small noncoding RNAs that are expressed in both animals and plants. In animal cells, miRNAs fine tune gene expression by pairing primarily to the 3'untranslated region of protein coding mRNAs to repress target mRNA translation and/or induce target degradation. miRNA-mediated regulation of signaling transduction pathways is important in modulating dose-sensitive response of cells to signaling molecules. This review discusses components of the Wnt signaling pathways that are regulated by miRNAs in the context of development and diseases. A fundamental understanding of miRNA functions in Wnt signaling transduction pathways may yield new insight into crosstalks of regulatory mechanisms essential for development and disease pathophysiology leading to novel therapeutics.

Clinical, histopathological, dermatoscopic and digital microscopic features of dermatofibroma: a retrospective analysis of 200 lesions.

BACKGROUND: Dermatology literature lacks a study investigating both histopathological and dermatoscopic features of dermatofibroma. OBJECTIVE: To analyse histopathological, dermatoscopic and digital microscopic features of dermatofibromas. METHODS: Two hundred dermatofibromas and 190 patients were included and retrospectively evaluated. Nine histopathological and ten dermatoscopic patterns were used to classify the lesions. We identified four different types of dermatofibroma in digital microscopy. RESULTS: The mean age of the patients was 42.18 ± 13.72 years. Dermatofibroma was more common in females (67%) and the male to female ratio was 1:1.97. The most common location was leg (41%). The most frequent histopathological variant was fibrocollagenous type (49%). Grenz zone was the most common histopathological finding (89%). The most frequent digital microscopic type was type 1 (63%). CONCLUSIONS: We found that palisading variant displayed only pattern 6 in dermatoscopy and cellular variant showed type 3 significantly in digital microscopy.

Prevalence of skin diseases in civilian and military population in a Turkish military hospital in the central Black Sea region.

OBJECTIVES: There are no epidemiological studies comparing the prevalence of skin diseases between civilian and military populations. We sought to determine and compare the prevalence of skin conditions between civilian and military populations. METHODS: A total of 3382 male patients (1148 military and 2234 civilian) were retrospectively and consecutively evaluated at Merzifon Military Hospital in the central Black Sea Region of Turkey. RESULTS: The most frequent dermatological condition was tinea pedis (15.8%) followed by acne vulgaris, allergic contact dermatitis and alopecia areata in the military population (15.7%, 7.7% and 5.4%, respectively). Acne vulgaris, xerosis cutis and allergic contact dermatitis were the most common diagnoses in the civilian group (19.4%, 14.1% and 9.1%, respectively). The prevalence of tinea pedis, alopecia areata, pityriasis versicolor, ingrown nail (unguis incarnatus) and callus were statistically significantly higher in the military group (15.8% vs 4.4%, p<0.001; 5.4% vs 1.7%, p<0.05; 3.5% vs 0.7%, p<0.001; 3.3% vs 0.3%, p<0.001 and 4.6% vs 0.9%, p<0.001; respectively). Xerosis cutis was found to be significantly higher in the civilian group (14.1% vs 5.8%, p<0.001). Superficial fungal disease was the most prevalent disorder as in the previous literature. CONCLUSIONS: Preventive measures should be taken to improve the health of troops and reduce the prevalence of the common disorders such as tinea pedis, alopecia areata and callus. Troops should wear boots only when necessary in base camps. Clothing which reduces ventilation is not recommended. Depression and anxiety should be recognised and treated in soldiers with alopecia areata, as a solely dermatological approach without psychological support may reduce treatment success.

A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.

Wolf-Hirschhorn syndrome is caused by a deletion of the distal portion of the short arm of chromosome 4, and is characterized by psychomotor retardation, seizures, congenital malformations, and typical facial appearance including 'Greek warrior helmet' appearance of the nose. The form and the severity of clinical manifestations vary according to the size and location of the deletion. Major complications are severe growth retardation, developmental delay, seizures, feeding difficulties due to hypotonia, and predisposition to respiratory infections. Patients will benefit from supportive therapy and special education. It is important in terms of prognosis to provide counseling to families in this respect. We present here a case with Wolf-Hirschhorn Syndrome in order to remind its rarity and the ability of the patients' progress in the areas of motor skills, speech, social interaction.

Assesment life quality of familial Mediterranean fever patients by short form-36 and its relationship with disease parameters.

BACKGROUND: Familial Mediterranean fever is an auto-inflammatory disorder. Long term complications of the disease include decreased quality of life. The measurement of quality of life in the patients with chronic disease has become an important research topic during the last years. AIM: We aimed to evaluate life quality of the FMF patients by SF-36, and examine its relationship with the disease parameters. PATIENTS AND METHODS: One hundred voluntary patients (69 female, 31 male) admitted to the rheumatology clinic were included in the study. The control group consisted of 100 healthy individuals. All subjects in the study were asked to complete SF-36 questionnaire. Age of onset of FMF, age at diagnosis, age at the beginning of colchicine therapy, number of attacks per month, family history of FMF and dialysis were inquired of patients with FMF. Disease severity was determined using the FMF severity score. RESULTS: The mean age of the patient group was 31±12 and that of the control group was 29±9. Sixty-nine patients (69%) were female, and 31 patients were male (31%) in both groups. The mean scores of the physical function, physical role function, emotional role function, mental health, and general health parameters of the patients were statistically significantly lower than those of healthy volunteers (p < 0.05). The difference in social function and vitality between two groups was found to be insignificant (p > 0.05). CONCLUSIONS: We have shown that FMF had a negative impact on SF-36. FMF reduces quality of life both in physical and mental dimensions.

Cystatin C in serum as an early marker of renal involvement in Familial Mediterranean Fever patients.

BACKGROUND: The major renal involvement in Familial Mediterranean Fever (FMF) is the occurrence of amyloidosis that primarily affects the kidneys manifested by proteinuria and ending in death from renal failure. AIM: This study aims to investigate whether serum cystatin (cys-C) levels could be used as an early marker of renal involvement in FMF patients. PATIENTS AND METHODS: Forty-six patients with FMF during the attack period (AP), and 41 patients with FMF during attack-free periods (AFP), and 11 patients with FMF associated amyloidosis, and 38 healthy controls were enrolled in the study. We determined cys-C levels in the serum of FMF patients and healthy controls. RESULTS: Serum cys-C levels were significantly increased in patients with FMF and secondary amyloidosis, and serum cys-C is a more accurate and efficient marker for detecting renal involvement than estimated glomerular filtration rate (e-GFR) in patients with FMF. CONCLUSIONS: We propose a cutoff level of the serum cys-C of 876.5 pg/mL for screening renal involvement in patients with FMF, and amyloidosis should be strongly suspected when the serum cys-C reaches 1565.5 pg/mL.

Serum 17-OH progesterone and free testosterone levels in women patients with Familial Mediterranean Fever: a pivotal study.

BACKGROUND: Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by short lived, febrile serosae inflammatory attacks. FMF has various effects in multiple systems and organs. AIM: In the present study, our aim was to evaluate adrenal steroidogenesis in female FMF patients. PATIENTS AND METHODS: There were 71 women in the study including 41 women with FMF and 30 women as healthy control group (HC group). Of 41 FMF patients, twenty were evaluated in attack period (AP-FMF group) whereas 21 of them were evaluated in attack-free period (AFP-FMF group). In all subjects; serum free testosterone, 17-OHP levels as hormones, IL-1 beta, TNF-alpha, IL-6, IL-18 as proinflammatory cytokines, CRP, fibrinogen, white blood cell (WBC) counts, and erythrocyte sedimentation rate (ESR) as acute phase reactants were measured in samples of venous blood taken in the morning before breakfast. RESULTS: Serum 17-OHP levels in AP-FMF group and AFP-FMF group were higher than in HC group (p < 0.001). A positive correlation was detected between serum levels of 17-OHP and IL-1 beta in FMF patients (p = 0.006; r = 0.486). There was no difference between FMF patients and HC group in terms of free testosterone levels (p > 0.05). CONCLUSIONS: Our results showed an increase in 17-OHP levels in FMF patients. These results may indicate that, regardless to the attack period adrenal steroidogenesis could be affected negatively in FMF patients.

Developing and advancing dry powder inhalation towards enhanced therapeutics.

Enhanced therapeutics are drug products derived from existing generic drugs that provide additional benefits to the patients and the healthcare system. Enhanced therapeutics are considered to be an important and relatively low risk source of innovation. Pulmonary drug delivery is the major delivery route to treat chronic respiratory diseases and has been proven as a potential delivery route for complex drugs that cannot be delivered orally. Development of dry powder inhalation systems targets the delivery of fine drug particles to the deep lung surface by a combination of drug formulation, primary packaging and a device, whereby each contributes to the overall performance. Various methodologies for the non-clinical and clinical performance testing of orally inhaled products have been proposed and applied with variable success. Regulatory pathways have been developed and applied since. Considerable efforts have been made during the past decade to understand and optimize pulmonary drug delivery including their efficient commercial manufacturing. Pulmonary drug delivery remains an area of future innovation in the effective treatment of pulmonary diseases as well as the systemic delivery of systemically active complex drugs.

Evaluation of biventricular myocardial performance index in patients with Behçet's disease.

OBJECTIVE: The global function of both left ventricular (LV) and right ventricular (RV) functions were compared in patients with Behçet's disease (BD) versus healthy controls. METHODS: Biventricular function was evaluated by measurement of the myocardial performance index (MPI) evaluated from tissue Doppler echocardiographic measurements in 24 BD patients and was compared with measurements in 24 age- and sex-matched healthy controls. RESULTS: Significantly higher MPI values were associated with ventricular dysfunction. The study demonstrated impaired RV function in patients with BD compared with healthy controls, whereas normal LV function was observed both in patients with BD and in healthy controls. CONCLUSION: Early noninvasive evaluation of the properties of BD during the asymptomatic phase of this inflammatory disease may have prognostic value in the management of patients.

A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.

Coffin-Lowry syndrome is an X-linked disorder characterized by mental retardation, characteristic facial features, skeletal abnormalities, and tapering fingers. Herein we report a novel missense mutation in exon 7 at codon 180 in the RPS6KA3 gene in a boy with Coffin-Lowry syndrome.

Acute lumbosacral polyradiculoneuropathy heralding transformation to systemic lupus erythematosus in a patient with discoid lupus.

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease with which a variety of neuropathic disorders have been associated. Among these, the acute inflammatory demyelinating polyradiculoneuropathy variant of Guillain-Barré syndrome has been well established. However, acute axonal lumbosacral polyradiculoneuropathy accompanied by albuminocytological dissociation in the cerebrospinal fluid has been extremely rarely reported in SLE. We report on a 47-year-old woman with discoid lupus presenting with acute onset of flaccid paraplegia. Extensive investigations suggested the diagnoses of axonal lumbosacral polyradiculoneuropathy and SLE. Treatment with intravenous methylprednisolone and cyclophosphamide resulted in clinical recovery. Development of immune-mediated polyneuropathy in a patient with discoid lupus should forewarn the clinician regarding transformation into the systemic form of the disease.

A case of otocephaly with anencephaly and meningomyelocele.

A case of otocephaly with anencephaly and meningomyelocele: Otocephaly is a rare lethal syndrome with microstomia, aglossia, agnathia, and synotia as major clinical features due to arrest in development of the first branchial arch. Some associated anomalies may be present as cyclopia, holoprosencephaly, cerebellar hypoplasia, situs inversus, and other visceral anomalies. We describe a case of fetus, spontaneously aborted in the 14th week of gestation with otocephaly complex (agnathia, synotia, microstomia) and associated anencephaly and meningomyelocele.

A case of lower mesodermal defects sequence.

Here, we describe a stillborn fetus who had lower mesodermal defects sequence associated with craniorachischisis, anencephaly, bilateral pulmonary hypoplasia.

Rubinstein Taybi syndrome with hepatic hemangioma.

OBJECTIVE: It was the aim of our study to present a case of Rubinstein Taybi syndome (RTS) associated with hepatic hemangioma. CLINICAL PRESENTATION AND INTERVENTION: A 6.5-year-old boy was diagnosed with RTS. He had large areas of cutaneous capillary hemangiomas. Radiological examination revealed a hepatic hemangioma. A multidisciplinary follow-up program was commenced and hepatic ultrasound examinations were performed periodically. No progression and complication have since occurred. CONCLUSION: This case shows an association between RTS and hepatic hemangioma, and hence, we recommend regular hepatic ultrasound examination when RTS is suspected or diagnosed.