Fourth branchial cleft anomalies are rare head and neck congenital lesions seen in children. They present as a neck inflammatory mass and arise essentially on the left side of the neck. We report the case of a 7-month-old female with a mass of the neck associated with respiratory distress. The mass was diagnosed as an incomplete fourth branchial cleft fistula. Surgical revision of the neck abscess from an external approach and plasma coblation of the orifice in the pyriform fossa by an endoscopic approach were performed.

• MeSH
• absces chirurgie   MeSH
• branchiální krajina * abnormality   chirurgie   MeSH
• kojenec MeSH
• kraniofaciální abnormality chirurgie   MeSH
• krk abnormality   chirurgie   patologie   MeSH
• lékařské ilustrace MeSH
• lidé MeSH
• nemoci faryngu MeSH
• píštěle chirurgie   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH

Pronator teres syndrome is characterized by compression of the median nerve, leading to dysfunction of the affected limb. Median nerve entrapment causes paresthesia, changes in sensitivity, and loss of strength in the fingers, in addition to causing loss of hand dexterity. The diagnosis of pronator teres syndrome is complicated, due to its similarity with other neuropathies of the median nerve. So, it is important to emphasize the need for a physical examination together with imaging tests, especially ultrasound, for its correct diagnosis. We report the case of a 28-year-old woman who complained of tingling for ten years in the proximal third of the left forearm at rest that worsens on exertion and weakness if not moving. On physical examination, she has no limitation of movement but refers to a feeling of weakness and numbness in his forearm. Ultrasonography demonstrates compression of the median nerve between the ulnar and humeral heads of the pronator teres muscle, a finding confirmed by magnetic resonance imaging and electroneuromyography. The patient was treated with physiotherapy presenting improvement of symptoms after 45 days.

• MeSH
• artrogrypóza MeSH
• dospělí MeSH
• elektromyografie metody   MeSH
• hereditární motorické a senzitivní neuropatie MeSH
• lidé MeSH
• magnetická rezonanční tomografie * metody   MeSH
• neuropatie nervus medianus diagnóza   MeSH
• předloktí MeSH
• ultrasonografie metody   MeSH
• úžinové syndromy diagnóza   patofyziologie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Autosomal dominant craniometaphyseal dysplasia (AD-CMD) is a rare condition defined by the occurrence of progressive diffuse hyperostosis of cranial bones and abnormal metaphyseal widening of the tubular bones. ANKH is known to be the only gene associated with AD-CMD. We present a case of a toddler boy with macrodolichocephaly, asymmetry of the skull, wide bulging forehead, gingival hypertrophy and irregular teeth. Physical examination, X-ray and DNA analysis were performed. All exons and flanking intron regions of ANKH were amplified by PCR and directly sequenced using the Sanger method. X-ray images showed diffuse osteosclerosis in the area of facial skeleton and skull base. Limbs exhibited club-shaped enlargement of the distal metaphysis of the femur and the proximal metaphysis of the tibia were described. The DNA analysis showed that the patient is a heterozygous carrier of the known pathogenic in-frame deletion (rs121908406; ANKH:c.1122-4delCTC, p.Ser375del), which has already been described in patients with AD-CMD.

• MeSH
• hyperostóza MeSH
• hypertelorismus MeSH
• kojenec MeSH
• kraniofaciální abnormality genetika   diagnostické zobrazování   MeSH
• lidé MeSH
• proteiny přenášející fosfát * genetika   MeSH
• radiografie MeSH
• vývojové onemocnění kostí genetika   diagnostické zobrazování   diagnóza   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Tracheobronchomalacia (TBM) presents diagnostic challenges due to its nonspecific symptoms and variability in diagnostic methods. This study evaluates physician concordance in TBM diagnosis and phenotyping using chest computed tomography (CT) scans with dynamic expiratory views. We conducted a retrospective cross-sectional study at Mayo Clinic Rochester, analyzing 150 patients with dynamic expiratory CT scans. Three specialists-a thoracic radiologist, a bronchoscopist, and a pulmonologist-reviewed identical CT scans, blinded to prior interpretations. Inter-rater agreement was assessed using Fleiss's Kappa for TBM diagnosis and Cohen's Kappa for TBM phenotype classification into six categories: No TBM, Excessive Dynamic Airway Collapse (EDAC), Crescent Type, Circumferential Type, Saber-Sheath Type, and Mixed Type. Among the 150 patients, 54 (36%) were diagnosed with TBM or EDAC. TBM was more prevalent in males, older individuals, and smokers. Agreement among specialists was substantial for TBM diagnosis (Fleiss's Kappa = 0.61, p < 0.001) but moderate for phenotype classification (Fleiss's Kappa = 0.52, p < 0.001). The highest concordance was between the thoracic radiologist and the pulmonologist (Cohen's Kappa = 0.68), while the lowest was between the bronchoscopist and other specialists. There is substantial agreement in TBM diagnosis using chest CT scans with dynamic expiratory views, but moderate variability in phenotyping. Standardizing criteria and integrating pulmonary function testing could enhance diagnostic consistency and clinical relevance.

• MeSH
• dospělí MeSH
• fenotyp * MeSH
• lidé středního věku MeSH
• lidé MeSH
• počítačová rentgenová tomografie * metody   MeSH
• průřezové studie MeSH
• retrospektivní studie MeSH
• senioři MeSH
• tracheobronchomalacie * diagnostické zobrazování   diagnóza   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Rozštěpy rtu a patra patří mezi nejčastější vrozené vady obličeje. Léčba rozštěpů je centralizovaná, multioborová a podílí se na ní plastický chirurg, ortodontista, anesteziolog, klinický logoped a další profese. Incidence rozštěpů rtu a patra zůstává stále přibližně stejná, mění se však přístup k jejich léčbě. Mezi moderní postupy léčby se stále více přidává 3D tisk a léčebné a výukové možnosti s ním spojené.

Cleft lip and cleft palate are among the most common congenital defects of the head. The treatment of clefts is centralized, multidisciplinary, and involves a plastic surgeon, orthodontist, anesthesiologist, clinical speech therapist, and other specialists. While the incidence of cleft lip and cleft palate remains approximately unchanged, the approach to their treatment is evolving. Modern treatment methods increasingly include 3D printing and the associated therapeutic and educational possibilities.

• MeSH
• 3D tisk MeSH
• lidé MeSH
• obturátory patra MeSH
• rozštěp patra * chirurgie   diagnostické zobrazování   MeSH
• rozštěp rtu * chirurgie   diagnostické zobrazování   MeSH
• zákroky plastické chirurgie MeSH
• zobrazování trojrozměrné MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH
• přehledy MeSH

BACKGROUND: Ring 18 chromosome is a rare chromosomal aberration associated with a wide range of symptoms affecting all organ systems. One possible symptom associated with this condition is an orofacial cleft. However, to date, there are very few reported cases where the cleft has been surgically treated. CASE DESCRIPTION: In our case study, we present a female patient with Ring 18 chromosome who underwent cleft palate surgery at 14 months of age. Subsequently, a reoperation of the palate was necessary due to wound dehiscence. For the secondary reconstruction of the palate, the acellular dermal matrix (ADM) MatriDerm® was used to improve healing. The cleft palate surgery progressively improved her ability to take in food, allowing a transition from nasogastric tube feeding to oral intake. RESULTS: This is only the fourth reported case of a child with Ring 18 chromosome undergoing surgical correction of an orofacial cleft. Additionally, it is one of the first cases where an ADM MatriDerm® was used in the surgical correction of a cleft palate. In this study, we also present a comprehensive literature review, providing an overview of the various symptoms associated with this syndrome. CONCLUSION: Cleft palate surgery had a very positive effect on improving food intake in the patient with Ring 18 chromosome. The use of an acellular dermal matrix during the secondary cleft palate surgery led to improved healing and a good outcome.

• MeSH
• kojenec MeSH
• kruhové chromozomy * MeSH
• lidé MeSH
• lidské chromozomy, pár 18 genetika   MeSH
• rozštěp patra * genetika   chirurgie   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH

A sedentary lifestyle, characterised by a lack of physical activity, negatively influences Body Mass Index (BMI). BMI may be related to the prevalence of flat feet. This study aims to observe the occurrence of flat feet in young children and determine its association with BMI. Additionally, it aims to analyse foot loading in the forefoot, midfoot and rearfoot. Dynamographic records of children (N = 142; age = 10.3 ± 0.21 years) were collected during walking, and foot-type evaluations were conducted using a force plate. A normal foot type was observed in 44% of children (BMI 16.0 ± 2.3 kg/m2). Flat feet were observed in 54% of children (BMI 18.4 ± 4.3 kg/m2). A high foot arch was observed in only 2% of children (BMI 16.0 ± 1.3 kg/m2). Children with flat feet had higher BMI values than those with normal feet. The contact time and maximal vertical force in the forefoot and rearfoot were similar in children with normal and flat feet. Significantly higher pressure values were observed in the midfoot zone of children with flat feet. Regression analysis results showed that in children with flat feet, there is a decrease in forefoot loading and an increase in midfoot loading with increasing BMI. This trend was not observed in children with normal feet. We recommend incorporating exercise interventions at this age to prevent pain and promote willingness to engage in physical activity. Higher BMI values indicate an increased risk for the prevalence of flat feet.

• MeSH
• chůze fyziologie   MeSH
• dítě MeSH
• index tělesné hmotnosti * MeSH
• lidé MeSH
• noha (od hlezna dolů) fyziologie   anatomie a histologie   MeSH
• plochá noha * epidemiologie   MeSH
• sedavý životní styl MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• kongresy jako téma MeSH
• kraniofaciální abnormality * MeSH
• ortodoncie MeSH
• rozštěp patra MeSH
• Publikační typ
• zprávy MeSH

• Klíčová slova
• orofaciální rozštěp,
• MeSH
• kraniofaciální abnormality * diagnóza   klasifikace   psychologie   MeSH
• kvalita života * MeSH
• lidé MeSH
• mladiství MeSH
• průzkumy a dotazníky MeSH
• rozštěp patra diagnóza   psychologie   MeSH
• rozštěp rtu diagnóza   psychologie   MeSH
• vrozené vady diagnóza   klasifikace   psychologie   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• klinická studie MeSH

• Klíčová slova
• posturální deformity,
• MeSH
• antropometrie metody   MeSH
• dítě MeSH
• hlava * abnormality   MeSH
• kefalometrie metody   MeSH
• kraniosynostózy * MeSH
• lebka abnormality   patologie   MeSH
• lidé MeSH
• Check Tag
• dítě MeSH
• lidé MeSH