Objective:To analyze the clinical data of laryngeal airway diseases in infants and provide reference for the standardized diagnosis and treatment of the disease. Methods:From June 2022 to August 2023, analyze the clinical data of 4 cases of children with laryngeal airway diseases recently admitted to Department of Otolaryngology, Fuzhou Children's Hospital of Fujian Province, and summarize the experience and lessons of diagnosis and treatment by consulting relevant literature. Results:Three cases had symptoms such as laryngeal wheezing, dyspnea, backward growth and development, etc. After electronic laryngoscopy, the first case was diagnosed with laryngeal softening （severe, type Ⅱ）, and the angular incision was performed. While cases 2, 3 diagnosed with case 2 and 3 were diagnosed with laryngeal cyst and underwent laryngeal cyst resection. All three cases underwent low-temperature plasma surgery under visual laryngoscope, and the symptoms were relieved after operation. Case 4 was laryngeal wheezing and dyspnea after extubation under general anesthesia. The electronic laryngoscopy showeded early stage of globetic stenosis, and endoscopic pseudomembrane clamping was performed, and the postoperative symptoms were relieved. Conclusion:Infants and young children with laryngeal airway diseases should pay attention to the early symptoms and be diagnosed by electronic laryngoscopy as soon as possible. With good curative effect and few complications, low-temperature plasma surgery under visual laryngoscope is recommended. The formation of pseudomembrane under the gluteal caused by tracheal intubation causes rapid onset and rapid development. The pseudomembrane extraction by clamping is convenient and fast, with good curative effect.
Infant ; Child ; Humans ; Child, Preschool ; Respiratory Sounds/etiology* ; Larynx ; Laryngeal Diseases/surgery* ; Laryngoscopy ; Intubation, Intratracheal/adverse effects* ; Dyspnea/surgery* ; Cysts/surgery*

Cysts ; Humans ; Liver ; Liver Diseases ; Punctures ; Takotsubo Cardiomyopathy/etiology*

BACKGROUND: The absence of thyroid cysts may indicate latent thyroid damage, as demonstrated in our previous study. However, the association between the absence of thyroid cysts and latent functional damage of the thyroid is unknown. At low thyroid hormone productivity, which may be associated with latent functional damage of the thyroid, the association between thyroid-stimulating hormone (TSH) and hypertension might be enhanced. Therefore, we evaluated the association between TSH level and hypertension stratified by thyroid cyst status. METHODS: We conducted a cross-sectional study of 1724 euthyroid Japanese individuals aged 40-74 years who participated in an annual health checkup in 2014. RESULTS: In the study population, 564 and 686 participants had thyroid cysts and hypertension, respectively. A significant positive association was observed between TSH and hypertension in subjects without a thyroid cyst but not in subjects with thyroid cysts. There was a significant positive association between hypertension and TSH in subjects without a thyroid cyst (odds ratio [OR] 1.27; 95% confidence intervals [CI] 1.01, 1.61) but not in subjects with thyroid cysts (OR 0.79; CI 0.57, 1.09) in the model fully adjusted for known confounding factors. The correlation between the TSH and free triiodothyronine (fee T3) levels (simple correlation coefficient [r] = - 0.13, p < 0.01) was stronger in the subjects without thyroid cysts than in those with thyroid cysts (r = - 0.03, p = 0.525). CONCLUSIONS TSH is positively associated with hypertension only in individuals without thyroid cysts. The correlation between the TSH and free T3 levels was stronger in the subjects without thyroid cysts than in those with thyroid cysts. Therefore, the absence of thyroid cysts could be related to the association between TSH level and hypertension, possibly by indicating that the subjects without thyroid cysts had limited thyroid hormone reserves. Therefore, the absence of thyroid cysts could indicate the latent functional damage of the thyroid.
Aged ; Cross-Sectional Studies ; Cysts/etiology* ; Female ; Humans ; Hypertension/metabolism* ; Japan ; Male ; Middle Aged ; Thyroid Diseases/etiology* ; Thyroid Gland/pathology* ; Thyrotropin/metabolism*

OBJECTIVE: To analyze clinical and genetic features of a family affected with Van der Woude syndrome. METHODS: The umbilical cord blood of the proband and the peripheral blood of the parents were used for the whole exon sequencing to find the candidate gene.Peripheral blood of 9 members of the family were collected for Sanger sequencing verification, bioinformatics analysis and genotype-phenotype correlation analysis. RESULTS: The proband was diagnosed with cleft lip and palate by ultrasound. His father and grandmother had hollow lower lip and all other family members did not have the similar phenotype. A missense c.263A>G (p.N88S) mutation was found in exon 4 of gene in the proband, his father and his grandmother.The mutation was not found in other family members. CONCLUSIONS A missense c.263A>G (p.N88S) mutation in gene probably underlies the pathogenesis of Van der Woude syndrome in the family and the mutation has been firstly discovered in China.
Abnormalities, Multiple ; genetics ; China ; Cleft Lip ; complications ; diagnostic imaging ; etiology ; genetics ; Cleft Palate ; complications ; diagnostic imaging ; etiology ; genetics ; Cysts ; complications ; genetics ; Female ; Humans ; Interferon Regulatory Factors ; genetics ; Lip ; abnormalities ; Male ; Mutation ; Pedigree ; Ultrasonography

ObjectiveTo investigate the diagnosis and treatment of ejaculatory duct cyst.

METHODSThis study included 2 male patients present at the hospital for hemospermia and abnormal sensation in the perineal region in July and August 2014. Both underwent transrectal ultrasonography, routine semen examination, CT, MRI, cystoscopy, and vesiculography before transurethral fenestration of the cysts and pathological examination of the cyst wall specimens. Analyses were made on the clinical presentations, imaging features, pathological characteristics, differential diagnosis and treatment of ejaculatory duct cyst and relevant literature was reviewed.

RESULTSThe cyst wall was mainly composed of smooth muscle, the inner wall lined with pseudostratified ciliated columnar epithelia, and with positive expressions of CD10 and Muc6 proteins on immunohistochemical staining, which indicated renal iatrogenic ejaculatory duct cyst. The patients were followed up for 18 and 20 months, respectively. All symptoms disappeared and no recurrence occurred after surgery. Routine semen examination for the two patients showed the semen volumes to be 3.5 and 3.1 ml, sperm concentrations 35 and 32 ×10⁶/ml, grade a sperm 32.0 and 26.0%, grade b sperm 18.0 and 31.0%, and semen liquidation time 30 and 34 minutes, respectively.

CONCLUSIONSPelvic cystic masses can be detected by transrectal ultrasonography, CT and MRI, but definite diagnosis relies on vesiculography, pathological examination and immunohistochemical staining. Transurethral fenestration is safe and effective for the treatment of ejaculation duct cyst.

Cysts ; diagnostic imaging ; pathology ; surgery ; Ejaculation ; Ejaculatory Ducts ; diagnostic imaging ; pathology ; surgery ; Genital Diseases, Male ; diagnostic imaging ; pathology ; surgery ; Hemospermia ; etiology ; Humans ; Magnetic Resonance Imaging ; Male ; Neoplasm Recurrence, Local ; Semen ; Semen Analysis ; Sperm Count ; Spermatozoa ; Tomography, X-Ray Computed ; Ultrasonography

Objective: To investigate the success rate and safety of percutaneous vasoseminal vesiculography with the disposable vasographic interventional therapy kit (VITK). METHODS: This study included ninety-six 19－65 (mean 43) years old male patients with infertility, hematospermia, seminal vesicle cyst, ejaculatory duct cyst, ejaculatory dysfunction, or vas deferens injury, with disease courses varying from 1 month to 7 years. With an open, multi-centered, single-group, self-controlled design and using the disposable VITK, we treated the patients by percutaneous vasoseminal vesiculography via injection of contrast medium into the vas deferens cavity under local anesthesia. RESULTS: Percutaneous vasoseminal vesiculography was successfully performed in 92 (97.87%) of the patients, which revealed abnormal seminal ducts in 51 cases (54.3%). Among the 28 infertile patients, 3 were found with bilateral and 5 with unilateral vas deferens obstruction. Vesiculitis was detected in 36 (81.8%) of the 44 hematospermia patients and bilateral vas deferens abnormality in 5 (38.5%) of the 13 patients with ejaculatory dysfunction. Transectional damage was observed in 2 patients with vas deferens injury induced by bilateral inguinal hernia repair. Three cases of seminal vesicle cyst and 4 cases of ejaculatory cyst were definitely diagnosed by vasoseminal vesiculography. CONCLUSIONS The disposable vasographic interventional therapy kit, with the advantages of simple operation and high safety, deserves a wide clinical application in vasoseminal vesiculography.
Adult ; Aged ; Contrast Media ; administration & dosage ; Cysts ; diagnostic imaging ; Ejaculatory Ducts ; diagnostic imaging ; Genital Diseases, Male ; diagnostic imaging ; Hemospermia ; diagnostic imaging ; etiology ; Hernia, Inguinal ; surgery ; Humans ; Infertility, Male ; diagnostic imaging ; Injections ; Male ; Middle Aged ; Postoperative Complications ; diagnostic imaging ; etiology ; Radiography ; methods ; Seminal Vesicles ; diagnostic imaging ; Vas Deferens ; diagnostic imaging ; injuries ; Young Adult

Abnormalities, Multiple/diagnostic imaging* ; Adolescent ; Adult ; Cysts/diagnostic imaging* ; Dysuria/etiology* ; Hemospermia/etiology* ; Humans ; Magnetic Resonance Imaging ; Male ; Male Urogenital Diseases/diagnostic imaging* ; Seminal Vesicles/diagnostic imaging* ; Solitary Kidney/diagnostic imaging* ; Syndrome ; Tomography, X-Ray Computed ; Young Adult

Van Wyk-Grumbach syndrome (VWGS) is a rare complication of prolonged untreated juvenile hypothyroidism characterized by precocious puberty and enlarged multicystic ovaries. A 13-year-old girl visited our outpatient clinic due to menstrual irregularities. She had precocious puberty, pituitary hyperplasia and multiple cystic ovaries in addition to clinical signs of severe congenital hypothyroidism. After the initiation of L-thyroxine therapy, the symptoms were alleviated in a short time. This rare syndrome is easy to be misdiagnosed as pituitary and ovarian tumor. High degree of suspicion and timely diagnosis can prevent unnecessary surgical procedures because the symptoms can be reversed with thyroid hormone supplementation.
Adolescent ; Congenital Hypothyroidism ; complications ; diagnosis ; etiology ; Diagnosis, Differential ; Diagnostic Errors ; Female ; Humans ; Hyperpituitarism ; Hyperplasia ; Menstruation Disturbances ; etiology ; Ovarian Cysts ; diagnosis ; etiology ; Ovary ; pathology ; Pituitary Gland ; pathology ; Puberty, Precocious ; diagnosis ; etiology ; Syndrome ; Thyroxine ; therapeutic use

OBJECTIVETo study the pathology, imaging and clinical features of a child with trisomy 21 syndrome associated interstitial lung disease.

METHODData of a case with trisomy 21 syndrome associated interstitial lung disease confirmed by lung imaging and pathology were collected, analyzed and the related reports in literature were reviewed.

RESULTThe patient was a one year and 7 months old boy who suffered from severe pneumonia and recurrent infection during his hospital stay. When his disease was stable, he did not have shortness of breath and cyanosis, but a chest computed tomography (CT) showed ground-glass opacity, regional emphysema, band-like change in lung parenchyma, which indicated interstitial lung diseases. Unequal air inflation in bilateral lungs and diffuse over-distension of peripheral air spaces in lung surface were seen through thoracoscope. Pathological examination indicated that alveolar, alveolar ducts and alveolar sac were enlarged, alveolar septa was expanded. There were two reports in lung pathology of trisomy 21 syndrome, alveolar growth abnormalities was seen in 86%-88% cases. The multiple subpleural cysts in chest CT was characteristic. Clinically, trisomy 21 syndrome had high morbidity of respiratory tract infection and progress to respiratory failure frequently. Prolonged postoperative desaturation was constant which required long duration of respiratory support.

CONCLUSIONTrisomy 21 syndrome associated alveolar growth abnormalities were confirmed, which manifest as alveolar simplification in pathology and interstitial lung diseases in imaging. The risk of respiratory failure in these cases caused by infection and surgery should be considered.

Cysts ; pathology ; Down Syndrome ; complications ; Humans ; Infant ; Lung ; pathology ; Lung Diseases, Interstitial ; diagnosis ; etiology ; Male ; Postoperative Period ; Pulmonary Alveoli ; pathology ; Respiratory Insufficiency ; Respiratory Tract Infections ; Tomography, X-Ray Computed

OBJECTIVETo improve the recognition of the clinical presentation and radiologic manifestation of children with Langerhans cell histiocytosis (LCH) with pulmonary involvement.

METHODA retrospective analysis was conducted on children who presented with respiratory symptoms or abnormal lung radiologic findings, and finally diagnosed with LCH in Ward 2 of Divison of Respiratory Diseases, Beijing Children's Hospital during the last 4 years.

RESULTFourteen children (10 boys and 4 girls) were included in this study. Male to female ratio was 2.5: 1. The median age was 1.3 years. Pulmonary involvements were coexisted with other involved organs in all the patients, such as skin (10 cases, 71%), liver (8 cases, 57%), and bone involvement (7 cases, 50%). The most common symptoms were cough and fever (7 cases, 50%). Respiratory symptoms were nonspecific, and 3 children had no respiratory symptom but abnormal findings on lung high-resolution CT (HRCT). The most common HRCT finding was the coexistence of nodules and cysts (6 cases, 43%). Other findings include cysts only (5 cases, 36%), nodules only (1 case), and with neither nodule nor cyst (2 cases, 14%). Pneumothorax was found in 7% of children.

CONCLUSIONPulmonary involvement in children with LCH is easily misdiagnosed, and often coexisted with other involved tissues/organs such as skin and liver. Rash, which is easily missed in physical examination is very important for the diagnosis of LCH. The characteristic findings of lung HRCT (nodules and/or cysts) are helpful for diagnosis.

Child ; Cough ; etiology ; Cysts ; Diagnostic Errors ; Exanthema ; etiology ; Female ; Fever ; etiology ; Histiocytosis, Langerhans-Cell ; complications ; diagnostic imaging ; Humans ; Infant ; Liver ; Lung Diseases ; diagnostic imaging ; Male ; Retrospective Studies ; Skin ; Tomography, X-Ray Computed