Mediastinal ectopic thyroid diagnosed by endobronchial ultrasound‐guided transbronchial needle aspiration: Report of three cases

An ectopic thyroid gland results from the abnormal migration of the thyroid in the course of its development. Primary ectopic mediastinal thyroid is very rare and occurs in less than 1% of all goiters that can be surgically excised. Ectopic thyroid tissue has a characteristic sonographic appearance as smooth‐bordered, homogeneous, hypoechoic tissue with fine specular echoes. We report 3 cases of mediastinal ectopic thyroid diagnosed by endobronchial ultrasound‐guided transbrochial needle aspiration biopsy.     

Bladder and bowel control in children with cerebral palsy: case-control study

Aim

To determine the age of development of bladder and bowel control and the frequency of enuresis, encopresis, and urinary infections in children with cerebral palsy.

Methods

The study included 45 children with cerebral palsy who regularly attended a rehabilitation center in Isparta, Turkey, and two groups of age- and sex-matched children, 37 siblings of the children with cerebral palsy and 37 healthy children. Demographic data and information on the age of development of total bladder and bowel control and presence of possible urinary symptoms in children were collected from their caregivers by use of a questionnaire. Frequency of enuresis and encopresis was estimated among the children aged ≥5 years. A mid-way urinary sample was obtained from 40, 22, and 21 children in the cerebral palsy, siblings, and healthy children, respectively.

Results

The mean age of nighttime bladder and bowel control development was 47 months (95% confidence interval [CI], 35-58) and 45 (36-55) months, respectively, for the children with cerebral palsy, 35 months (95% CI, 24-46) and 26 months (95% CI, 24-28), respectively, for their siblings, and 27 months (95% CI, 22-33) and 25 months (95% CI, 23-27) months, respectively, for the healthy children. Among the children aged ≥5 years, enuresis was present in 11 of 34 children with cerebral palsy, 7 of 30 siblings, and 4 of 30 healthy children (P = 0.200), whereas encopresis was present in 5 children with cerebral palsy, one sibling, and one healthy child. Constipation was significantly more present in chidlren with cerebral palsy than in other two groups (P<0.001). Urine culture was positive in 13 children with cerebral palsy, 1 sibling, and 2 healthy chidlren (P = 0.024). There were no significant differences in other urinary symptoms and laboratory findings among the three groups.

Conclusion

The children with cerebral palsy gained bladder and bowel control at older age in comparison with their siblings and healthy children. They also had more frequent enuresis and urinary infections.Cerebral palsy represents a group of chronic, non-progressive motor disorders characterized by impaired voluntary movement resulting from prenatal developmental abnormalities or perinatal or postnatal central nervous system damage. Some people with cerebral palsy are also affected by other medical disorders, such as seizures, mental retardation, hearing and vision problems, and communication problems (1,2). The prevalence of cerebral palsy is approximately 2-3 per 1000 live births (1-3).The involuntary voiding of urine beyond the age of anticipated bladder control is defined as enuresis. The ability to void or inhibit voiding voluntarily at any degree of bladder filling commonly develops during the second and third year of life, and most children acquire an adult pattern of urinary control by the age of 4 (4,5). The fourth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) defines enuresis and encopresis as involuntary or unintentional repeated voiding of urine or feces, respectively, into bed or clothes, which occurs twice a week for at least 3 consecutive months, and the child must be at least 4 years old (5). The bladder and bowel control typically develops in the following sequence: nocturnal bowel control, daytime bowel control, daytime control of voiding, and nocturnal control of voiding (5).Urinary incontinence or enuresis, fecal incontinence or encopresis, and constipation are common bowel and bladder problems among adults or children with cerebral palsy (6-11). Furthermore, age of achieving bladder and bowel control in the children with cerebral palsy are higher than in their healthy peers (9,12). The development of bladder and bowel control may be influenced by neurological impairment in the children with cerebral palsy. Additionally, the frequency of urinary tract infections in these children may be higher than in healthy ones (6,7). Thus it is important to think about the possibility of a bladder problem in any child with cerebral palsy who would be expected to be dry, particularly if there is a history of urinary tract infections (13).The healthy siblings of disabled children, including children with cerebral palsy, are exposed to emotional distress more often than other healthy children without disabled siblings (14), but they do not differ in health, nutritional, or growth status (15). Moreover, the siblings of children with cerebral palsy encourage their brother or sister to be more independent and thus may contribute to improvement of the functional status of children with cerebral palsy (16).Our aim was to determine the age of achieving bladder and bowel control and frequencies of enuresis, encopresis, and urinary infections in children with cerebral palsy in comparison with their healthy siblings and other healthy children.     

A rare combination of vascular variations of both kidneys

Bilateral variations of renal vessels were encountered during the dissection of a 54-year-old male cadaver. There were triple renal arteries bilaterally, double renal veins on the right, and an unusual formation of renal vein on the left side. A bilateral occurrence of triple renal arteries has not been encountered in the literature, so does an incidence. Additional renal vessels have the potential to cause clinical complications such as hydronephrosis. Their existence has utmost importance in surgical and radiological interventions and radiological examinations.     

Clinical Heterogeneity of Immunodysregulation,Polyendocrinopathy, Enteropathy,X-linked: Pulmonary Involvement as a Non-Classical Disease Manifestation

Purpose

IPEX (Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked) is a rare X-linked recessive life-threatening disorder characterized by autoimmunity and early death. Pulmonary complication related with IPEX has not been elucidated exactly. Here, we report 4 IPEX patients, 3 of which died from severe pulmonary disease.

Methods

Clinical data and laboratory findings including autoantibodies, immunoglobulin levels as well as number of T, B and NK cells were evaluated. FOXP3 expression and T reg activity were analyzed. The FOXP3 gene was sequenced and RNA analysis was performed.

Results

Patient I (PI) presented with nephrotic syndrome at 3 years of age and then developed autoimmune hepatitis without eczema, enteropathy or high IgE and died at 9 years of age due to acute respiratory distress syndrome (ARDS). Two cousins of PI had the same hypomorphic splice site mutation leading to a deletion of 27 amino acids, but normal FOXP3 protein expression and normal suppressive capacity of T reg in a proliferation inhibition assay. However, they exhibited typical symptoms such as eczema, diabetes and enteropathy with eosinophilia at early age (PII, PIII) and were transplanted in infancy. One of them had severe respiratory distress right after birth (PIII). Patient IV from another family presented with chronic diarrhea without autoimmune manifestations and died due to ARDS.

Conclusion

Lung disease related to IPEX syndrome has not been reported before and this entity could be a critical factor in disease outcome.     

An in vivo database model for pharmacological and physiological dosage for experimental animals

We developed a database compiling in vivo doses of compounds for various activities in certain animal species. The related database covers almost 100 years of experiments. The conceptual scheme of the database was created using concepts of the entity-relationship modeling principles. Using published references, dosages and their effects on laboratory animals were entered as data. As the next stage of our work, we have started to examine the available literature to information about the experimental dosages of various drugs used in other studies.The database provides various interfaces, including graphical-user interfaces and interfaces for Internet access. The database will be useful as a knowledge infrastructure for researchers who have to perform dose-scan experiments for a specific pharmacological activity. The basic benefit of that knowledge infrastructure is that it will enable virtual pharmacological experiments that will be considerably less expensive than conventional laboratory experiments, because the number of animals used and the number of dose-scan experiments will be greatly reduced. The developed database will also be helpful for new drug development studies and for responding to queries about animal types, drugs used, drug interactions, and results.     

Molecular Characterization of a Full Genome Turkish Hepatitis C Virus 1b Isolate (HCV-TR1): A Predominant Viral Form in Turkey

Based on direct sequencing information from 5UTR and NS5B regions, we identified subtype 1b as a predominant hepatitis C virus genome in Turkey, which affected more than 91% of 79 patients studied. Next, the full genome sequence of a Turkish 1b isolate was obtained by the cloning of polypeptide-encoding region into 7 overlapping fragments. Turkish 1b isolate, which was named HCV-TR1, comprises 9361 nucleotides, including 306 nucleotides of 5UTR, a single long open reading frame of 9033 nucleotides, and 22 nucleotides of 3UTR. When compared to HCV 1b polypeptide sequences available at GenBank, the predicted polypeptide displayed a total of 36 amino acid substitutions, of which 16 was specific for HCV-TR1 isolate. Despite these changes, major structural and functional motifs of HCV proteins were maintained in HCV-TR1. In contrast, HCV-TR1 displayed amino acid substitutions in 6 out of 9 major cytotoxic T-cell epitopes. These data suggest that HCV-TR1 encodes functionally intact viral proteins, but it also encodes altered viral epitopes, which may affect host immune-response.     

Role of insulin like growth factor-I in repair response in immature cartilage

OBJECTIVE: The purpose of this study was to investigate the effects of exogenous local Insulin like growth factor-I (IGF-I) on the repair of full-thickness articular cartilage defects in immature rabbits. DESIGN: Thirty-six skeletally immature New Zealand rabbits between 6 and 8 weeks old were used. A single defect, 3.5-mm-wide by 4-mm-deep full-thickness articular cartilage defect in the medial femoral condyle, was created. The defect was either filled with a collagen sponge or with a collagen sponge impregnated with 5 mug of recombinant IGF-I. The animals were sacrificed at 4, 8 or 12 weeks, and the repair tissue was examined macroscopically and histologically. Repair tissue was also examined immunohistochemically for the presence of type-I collagen, type-II collagen and PCNA at all weeks. RESULTS: Newly formed tissue in all of the defects in the IGF-I group had the gross, histological and histochemical appearance of a smooth, intact hyaline articular cartilage. The average total scores on the histological grading scale were significantly better (p<0.05) for the defects treated with recombinant IGF-I at all time points. Immunostaining with an antibody against type-II collagen showed the diffuse presence of the repair cartilage in the IGF-I treated defects. The control groups demonstrated minimum staining with type-II collagen antibody. CONCLUSIONS: These findings suggest that repair of full-thickness immature cartilage defects can be enhanced by recombinant IGF-I.     

Investigation of hearing loss in patients with acute brucellosis by standard and high-frequency audiometry

This study aimed to determine the effect of acute brucellosis on the auditory system. Forty-two patients with acute brucellosis were evaluated clinically, and with serological and audiological tests, before and after treatment. Hearing threshold averages were calculated at 11 different frequencies (250-8000 Hz) of the auditory airway, and statistical analysis was performed. The average hearing thresholds were > 20 dB, with standard audiometry at 6000-8000 Hz, and < 20 dB at all other frequencies. After treatment, the average auditory threshold decreased to < 20 dB at 6000-8000 Hz (p < 0.0001). Pure-tone hearing thresholds were improved at all frequencies after treatment, with statistically significant differences at all frequencies except 12,000, 14,000 and 16 000 Hz (p < 0.05). There was no permanent hearing loss caused by acute brucellosis, and hearing thresholds were restored after treatment. It was concluded that acute brucellosis affects the auditory system, especially at high frequencies, and that patients with all forms of brucellosis should be evaluated for hearing loss.