Humans ; Mouth Diseases ; diagnosis ; etiology ; Palate ; pathology

Hemorrhage ; etiology ; Humans ; Infant ; Male ; Mouth Diseases ; etiology ; Vitamin K Deficiency ; complications ; diagnosis

An 8-year-old girl who had experienced intermittent cough and fever over a 3 year period, was admitted after experiencing a recurrence for one month. One year ago the patient experienced a recurrent oral mucosal ulcer. Physical examination showed vitiligo in the skin of the upper right back. Routine blood tests and immune function tests performed in other hospitals had shown normal results. Multiple lung CT scans showed pulmonary infection. The patient had recurrent fever and cough and persistent presence of some lesions after anti-infective therapy. The antitubercular therapy was ineffective. Routine blood tests after admission showed agranulocytosis. Gene detection was performed and she was diagnosed with dyskeratosis congenita caused by homozygous mutation in RTEL1. Patients with dyskeratosis congenita with RTEL1 gene mutation tend to develop pulmonary complications. Since RTEL1 gene sequence is highly variable with many mutation sites and patterns and can be inherited via autosomal dominant or recessive inheritance, this disease often has various clinical manifestations, which may lead to missed diagnosis or misdiagnosis. For children with unexplained recurrent pulmonary infection, examinations of the oral cavity, skin, and nails and toes should be taken and routine blood tests should be performed to exclude dyskeratosis congenita. There are no specific therapies for dyskeratosis congenita at present, and when bone marrow failure and pulmonary failure occur, hematopoietic stem cell transplantation and lung transplantation are the only therapies. Androgen and its derivatives are effective in some patients. Drugs targeting the telomere may be promising for patients with dyskeratosis congenita.
Child ; Dyskeratosis Congenita ; complications ; therapy ; Female ; Humans ; Mouth Diseases ; etiology ; Mouth Mucosa ; pathology ; Recurrence ; Respiratory Tract Infections ; etiology ; Telomere ; drug effects ; Ulcer ; etiology

Sjogren's syndrome (SS) describes xeropthalmia and xerostomia due to lymphocytic infiltrates of lacrimal and salivary glands. SS may occur alone (primary SS) or in association with several other autoimmune diseases (secondary SS). The clinical features involve a wide variety of organs, including skin, eyes, oral cavity and salivary glands, and systems, including nervous, musculoskeletal, genitourinary and vascular. Sicca symptoms can be found in a number of other disorders including rheumatoid arthritis, systemic lupus erythematosus, scleroderma, primary biliary cirrhosis, and other rheumatic disorders.
Eye Diseases/etiology ; History of Medicine, 20th Cent. ; Human ; Mouth Diseases/etiology ; *Sjogren's Syndrome/complications/diagnosis/history/physiopathology/therapy ; Skin Diseases/etiology ; Sweden

Child ; Child, Preschool ; Female ; Hand, Foot and Mouth Disease ; complications ; Humans ; Infant ; Male ; Nail Diseases ; etiology

A one-year-old girl visited the hospital due to limb torsion and developmental regression for one month after hand, foot and mouth disease. At the age of 11 months, she visited a local hospital due to fever for 5 days and skin rash with frequent convulsions for 2 days and was diagnosed with severe hand, foot and mouth disease, viral encephalitis, and status epilepticus. Brain MRI revealed symmetric abnormal signals in the bilateral basal ganglia, bilateral thalamus, cerebral peduncle, bilateral cortex, and hippocampus. She was given immunoglobulin, antiviral drugs, and anticonvulsant drugs for 2 weeks, and the effect was poor. Blood and urine screening for inherited metabolic diseases were performed to clarify the etiology. The analysis of urine organic acids showed significant increases in glutaric acid and 3-hydroxyglutaric acid, which suggested glutaric aciduria type 1, but her blood glutarylcarnitine was normal, and free carnitine significantly decreased. After the treatment with low-lysine diets, L-carnitine, and baclofen for 1 month, the patient showed a significant improvement in symptoms. Hand, foot and mouth disease is a common viral infectious disease in children, and children with underlying diseases such as inherited metabolic diseases and immunodeficiency may experience serious complications. For children with hand, foot and mouth disease and unexplained encephalopathy, inherited metabolic diseases should be considered.
Amino Acid Metabolism, Inborn Errors ; etiology ; Brain Diseases, Metabolic ; etiology ; Developmental Disabilities ; etiology ; Female ; Glutaryl-CoA Dehydrogenase ; deficiency ; Hand, Foot and Mouth Disease ; complications ; Humans ; Infant ; Torsion Abnormality ; etiology

OBJECTIVEThis study was undertaken to investigate the clinical features of oral motor dysfunction and feeding problems as well as the nutritional status of children with cerebral palsy (CP).

METHODSFifty-nine CP children, 39 boys and 20 girls, mean age 31 months (20 to 72 months), were recruited. Their parents were interviewed for high risk factors and feeding history. Each case was assessed for oral motor and feeding problems based on oral motor and feeding skill score; for nutritional status by measurement of weight, height; neurologically for type of cerebral palsy and for developmental age by Gesell's developmental scale. Equal number of age and sex matched controls were included for comparison of nutritional status, oral motor and feeding skill score.

RESULTSAmong 59 patients, 51 cases had oral motor dysfunction and 55 cases had feeding problems including all athtosis, spastic tetraplegia, and 16 had spastic diplegia. The scores of both the mean oral motor function and feeding skill of CP children were significantly lower than those of the controls (P < 0.001). Main food of children with cerebral palsy consisted of liquid and semisolid diet. Body weight and height below the 25th percentile were found in 13 cases and 19 cases, respectively.

CONCLUSIONSThe majority of the children with cerebral palsy had oral motor dysfunction and feeding problems which appeared in early age and disturbed the growth and nutritional status. Thorough assessment for oral motor function, feeding problems and nutritional status of CP children is indicated in order to start timely rehabilitation and nutritional interventions which can significantly improve their nutritional status and quality of life.

Cerebral Palsy ; complications ; physiopathology ; Child ; Child, Preschool ; Feeding and Eating Disorders of Childhood ; etiology ; physiopathology ; Female ; Humans ; Infant ; Male ; Mouth ; physiopathology ; Mouth Diseases ; etiology ; physiopathology ; Muscular Diseases ; etiology ; physiopathology ; Nutritional Status

OBJECTIVETo review and summarize the experience of urethral reconstruction using lingual mucosal graft for the treatment of complex hypospadias.

METHODSWe evaluated the methods using lingual mucosal graft for the treatment of complex hypospadias. The dorsal inlay graft method and the tube graft method were used in our study.

RESULTSFrom Nov. 2010 to Oct. 2011,21 cases were treated. All the cases had at least one failed hypospadisa surgery before. The dorasl inlay grafting technique was used for 16 patients, the tube grafting technique was carried out in 5 patients(2 cases received Tube + Duply method). The follow-up period ranged from 3 months to 12 months (by average 6 months). The success rate of the methods was 61.9% with complications in 8 cases. Urethral fistula developed in 3 patients and urethral stricture developed in 5 patients. All cases who suffered stricture received the tube grafting technique. The fistula and urethral stricture were occurred at the site of the urethral termonoterminal anostomosis. Urethral stricture is the most common complication after the tube graft method for the treatment of the complex hypospadias.

CONCLUSIONSHarvesting the lingual mucosal graft is feasible and easy to perform. The complex hypospadias repair technique using lingual mucosal graft method provides good results. There fore it should be one of the preferred techniques for complex hypospadias repair. The dorsal inlay grafting technique has lower complication rate than the tube grafting technique. Early and regular urethral sounding should be carried out when patients received the tube graft method.

Adolescent ; Child ; Humans ; Hypospadias ; surgery ; Male ; Mouth Mucosa ; transplantation ; Reconstructive Surgical Procedures ; adverse effects ; Tongue ; Urethra ; surgery ; Urethral Diseases ; etiology ; Urethral Stricture ; etiology ; Urinary Fistula ; etiology ; Urologic Surgical Procedures, Male ; adverse effects

OBJECTIVEto evaluate the risk factors for postoperative pulmonary complications following transoral operation for the atlanta-axis disorders.

METHODStotal 104 cases were collected from January 2005 to June 2009. Twelve variables among patients with PPCs and without PPCs were analyzed by logistic regression analysis.

RESULTSthe incidence of postoperative pulmonary complications following transoral operation for the atlanta-axis disorders was 22.1% (23/104). There was significantly difference in 9 variables between patients with PPCs and without PPCs, and 5 variables as serum albumin < 35 g/L (OR = 15.185, P = 0.003), tracheotomy (OR = 32.254, P = 0.015), Frankle grade (OR = 8.866, P = 0.001), the duration of intubation > 4 d (OR = 7.934, P = 0.002), the duration of surgery > 6 h (OR = 16.889, P = 0.006) were found to be significantly related to the development to postoperative pulmonary complications by multivariate analysis.

CONCLUSIONserum albumin < 35 g/L, tracheotomy, Frankle grade, the duration of intubation > 4 d, the duration of surgery > 6 h are the risk factors for postoperative pulmonary complications following transoral operation for the atlanta-axis disorders.

Adolescent ; Adult ; Aged ; Axis, Cervical Vertebra ; surgery ; Cervical Atlas ; surgery ; Female ; Humans ; Logistic Models ; Lung Diseases ; etiology ; Male ; Middle Aged ; Mouth ; surgery ; Multivariate Analysis ; Postoperative Complications ; etiology ; Risk Factors ; Young Adult