Muenke syndrome is an autosomal dominant genetic disorder that is typically characterized by unilateral or bilateral coronal synostosis, macrocephaly, midface hypoplasia, and developmental delays. This article reports a case of Muenke syndrome with a soft cleft palate. A heterozygous missense mutation c.749C>G (p.P250A) was identified in the FGFR3 gene through genetic testing. The patient exhibited typical features including coronal synostosis, bilateral hearing loss, right accessory auricle, and developmental delays and underwent surgery to repair the soft cleft palate. Cases of Muenke syndrome with cleft palate in the literature are relatively rare, and common associated symptoms include coronal suture craniosynostosis and hearing impairment. This article reports a differential diagnosis with other craniosynostosis syndromes and provides a reference for clinical diagnosis and treatment.
Humans ; Cleft Palate/surgery* ; Craniosynostoses/diagnosis* ; Mutation, Missense ; Palate, Soft/abnormalities* ; Receptor, Fibroblast Growth Factor, Type 3/genetics*

Objective: To investigate the clinicopathological features, clinical manifestations and different diagnosis of patients with complicated lymphatic anomaly. Methods: The clinical and pathologic data of four patients with complicated lymphatic anomaly diagnosed and treated in Peking Union Medical College Hospital from January 2000 to December 2021 were collected and analyzed. Results: One Gorham-Stout disease case and three generalized lymphatic anomaly cases were included in this cohort. Patients' ages ranged from 7 to 32 years. There were three males and one female. The positions of biopsy included three bone biopsy and one bronchus biopsy. Microscopically, all cases showed diffuse enlarged lymphatic channels. At the same time, osteogenesis was obvious in Gorham-Stout disease case. Radiologically, cortical loss was seen in Gorham-Stout disease, and lytic bone confined to the medullary cavity presented in generalized lymphatic anomaly. The three generalized lymphatic anomaly cases also had coagulopathy, and two had effusion. Conclusions: The histologic feature of complicated lymphatic anomaly was diffuse lymphatic malformation, and the diagnosis depends on clinical and pathologic information. The treatment and prognosis of these diseases are different, and therefore it is necessary to understand their clinical and pathologic features and make the correct diagnosis.
Male ; Humans ; Female ; Child ; Adolescent ; Young Adult ; Adult ; Osteolysis, Essential/pathology* ; Lymphatic Abnormalities/surgery* ; Bone and Bones/pathology* ; Diagnosis, Differential ; Prognosis

BackgroundHand injuries are very common in sports, such as skiing and ball sports. One of the major reasons causing hand and finger deformity is due to ligament and tendon injury. The aim of this study was to investigate if the high-resolution 3T magnetic resonance imaging (MRI) can demonstrate the complex anatomy of the fingers and thumb, especially the tendons and ligaments, and provide the accurate diagnosis of clinically important fingers and thumbs deformity due to ligamentous and tendinous injuries during sport activities.

MethodsSixteen fresh un-embalmed cadaveric hands were harvested from eight cadavers. A total of 20 healthy volunteers' hands and 44 patients with fingers or thumb deformity due to sports-related injuries were included in this study. All subjects had MR examination with T1-weighted images and proton density-weighted imaging with fat suppression (PD FS) in axial, coronal, and sagittal plane, respectively. Subsequently, all 16 cadaveric hands were sliced into 2-mm thick slab with a band saw (six in coronal plane, six in sagittal plane, and four in axial plane). The correlation of anatomic sections and the MRI characteristics of tendons of fingers and the ulnar collateral ligament (UCL) at the metacarpal phalangeal joint (MCPJ) of thumb between 20 healthy volunteers and 44 patients (confirmed by surgery) were analyzed.

ResultsThe normal ligaments and tendons in 16 cadaveric hands and 20 volunteers' hands showed uniform low-signal intensity on all the sequences of the MRI. Among 44 patients with tendinous and ligamentous injuries in the fingers or thumb, 12 cases with UCL injury at MCPJ of the thumb (Stener lesion = 8 and non-Stener lesion = 4), 6 cases with the central slip injury, 12 cases with terminal tendon injury, and 14 cases with flexor digitorum profundus injury. The ligaments and tendons disruption manifested as increased signal intensity and poor definition, discontinuity, and heterogeneous signal intensity of the involved ligaments and tendons.

ConclusionsSports injury-related fingers and thumb deformity are relatively common. MRI is an accurate method for evaluation of the anatomy and pathologic conditions of the fingers and thumb. It is a useful tool for accurate diagnosis of the sports-related ligaments and tendons injuries in hand.

Adult ; Athletic Injuries ; diagnosis ; surgery ; Female ; Hand Deformities ; diagnosis ; surgery ; Humans ; Ligaments ; diagnostic imaging ; surgery ; Magnetic Resonance Imaging ; Male ; Metacarpophalangeal Joint ; diagnostic imaging ; surgery ; Middle Aged ; Soft Tissue Injuries ; diagnostic imaging ; surgery ; Tendon Injuries ; diagnostic imaging ; surgery ; Thumb ; abnormalities ; surgery

Transoral microresection for treatment of vocal cord lesions involving the anterior commissure may result in anterior glottic webs. In this study, we retrospectively reviewed 54 patients who underwent microsurgery for bilateral lesions involving the anterior commissure and categorized them into two groups. The keel placement and control groups received endoscopic keel placement and mitomycin C, respectively. During the follow-up of at least 1 year, the laryngeal web formation rate significantly decreased in the keel placement group compared with that in the control group (18.6% versus 54.5%, P < 0.05). Furthermore, the voice handicap index-10 scores for patients without web formation decreased in both the keel placement and control groups (P < 0.0001 and P < 0.001, respectively). A pseudomembrane covering the vocal cords was detected in 16.3% (7 of 43) cases after keel removal. A total of 100% (7 of 7) of these cases and 2.8% (1 of 36) of the other cases formed laryngeal webs (P < 0.0001). Endoscopic keel placement could be an effective method for preventing anterior glottic webs after surgery for bilateral vocal cord diseases involving the anterior commissure. The pseudomembrane observed at the time of keel removal may imply a high risk of web formation.
Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Laryngoscopy ; Laryngostenosis ; diagnosis ; etiology ; surgery ; Larynx ; abnormalities ; surgery ; Male ; Middle Aged ; Retrospective Studies ; Silicone Elastomers ; Young Adult

Acetabulum ; abnormalities ; diagnostic imaging ; Adolescent ; Adult ; Cartilage ; abnormalities ; Female ; Hip Dislocation, Congenital ; diagnosis ; surgery ; Hip Joint ; abnormalities ; surgery ; Humans ; Ligaments ; abnormalities ; Male ; Orthopedic Procedures ; Young Adult

Objective: To determine the feasibility and short-term effect of single scrotal-incision orchidopexy (SSIO) without ligation of the processus vaginalis (PV) in the treatment of palpable undescended testis (PUDT). METHODS: This retrospective study included 109 cases of PUDT (125 sides) and 15 cases of impalpable undescended testis (IUDT). The former underwent SSIO without PV ligation (group A, n = 53) or standard inguinal orchidopexy with PV ligation (group B, n = 56) while the latter received laparoscopic exploration (group C). We analyzed the success rate of SSIO in the management of PUDT, postoperative complications, and incidence rates of hernia and hydrocele, and compared the relevant parameters between groups A and B. RESULTS: The median age of the PUDT patients was 1.4 (0.6－11.0) years. Group A included 24 cases of left PUDT (2 with hydrocele), 20 cases of right PUDT (1 with hydrocele), and 9 cases of bilateral PUDT, the success rate of which was 95.1%. Group B consisted of 27 cases of left PUDT, 22 cases of right PUDT (3 with hernias), and 7 cases of bilateral PUDT. The rate of PV patency in the PUDT patients was 80.8% (101/125). Laparoscopic exploration of the 15 IUDT patients revealed 2 cases of congenital testis absence, 6 cases of testis dysplasia, all treated by surgical removal, 3 cases of staying around the inner ring, descended by inguinal orchidopexy, and the other 4 treated by laparoscopic surgery. The incisions healed well in all cases, with no testicular atrophy, inguinal hernia or hydrocele. CONCLUSIONS Single scrotal-incision orchidopexy without PV ligation is a safe and feasible procedure for the treatment of palpable undescended testis, which avoids the risk of inguinal hernia or hydrocele.
Child ; Child, Preschool ; Cryptorchidism ; surgery ; Feasibility Studies ; Gonadal Dysgenesis, 46,XY ; diagnosis ; Hernia, Inguinal ; Humans ; Infant ; Laparoscopy ; statistics & numerical data ; Ligation ; statistics & numerical data ; Male ; Orchiopexy ; adverse effects ; methods ; Postoperative Complications ; etiology ; Retrospective Studies ; Scrotum ; surgery ; Surgical Wound ; Testicular Diseases ; diagnosis ; Testicular Hydrocele ; Testis ; abnormalities

OBJECTIVETo analyze the clinical characteristics of unilateral conductive hearing loss with intact tympanic membrane, and summarize the key diagnostic points, differential diagnosis and observe the effects of surgical treatment.

METHODSWe reviewed data from 82 patients with unilateral conductive hearing loss with intact tympanic membranes who accepted the exploratory tympanotomy from April 2011 to September 2013. There were 41 males and 41 females, aged from 7 to 66( averaged 26.5±13.7)years, with a history of one month to 50 years. The history, clinical symptoms, audiological evaluation, high resolution temporal bone CT, the results of surgical exploration and hearing reconstruction were analyzed.

RESULTSThe exploratory tympanotomy revealed 43 cases of congenital middle ear malformations (52.4%), 22 cases of otosclerosis (26.8%), eight cases of congenital cholesteatoma (9.8%), six cases of trauma induced conductive hearing loss (7.3%), three cases of congenital ossicular malformations with congenital cholesteatoma (3.7%). Progressive hearing loss was common in patients with otosclerosis and congenital cholesteatoma, and patients with congenital middle ear malformations described their hearing loss since childhood. High resolution temporal bone CT of congenital middle ear malformation, trauma induced conductive hearing loss, congenital cholesteatoma diagnosis rate was 40.0%, 50.0%, and 83.3% respectively. The preoperative air-conductive threshold of patients with absence of the oval window were increased to (66.9±1.1)dBHL, the preoperative bone-conductive threshold achieved (28.3±10.4)dBHL at 2 000 Hz. While patients with stapes fixation and that with ossicular chain discontinuity were (27.2±9.7)dBHL and (17.8±8.8)dBHL(P=0.000)respectively. Through the tympanic exploration with endaural incision under the microscope, different hearing reconstruction were applied according to different lesions. After the operation, the hearing level of 52 patients with return visit were improved, the mean air-conductive threshold were decreased from (60.0±11.4)dBHL to (32.2±12.1)dBHL(P=0.000); and the mean ABG were decreased from (43.2±12.0)dB to (16.3±9.4)dB(P=0.000).

CONCLUSIONSCongenital middle ear malformations, otosclerosis, congenital cholesteatoma are the most common causes in unilateral conductive hearing loss with an intact tympanic membrane. The diagnosis rate can be improved by analyzing the clinical features. Through exploratory tympanotomy and hearing reconstruction, we can clarify the diagnosis and achieve a satisfying hearing recover.

Adolescent ; Adult ; Aged ; Audiometry ; Child ; Cholesteatoma ; congenital ; pathology ; Diagnosis, Differential ; Ear Ossicles ; pathology ; Ear, Middle ; abnormalities ; Female ; Hearing Loss, Conductive ; pathology ; surgery ; Humans ; Male ; Middle Aged ; Middle Ear Ventilation ; Otosclerosis ; pathology ; Tympanic Membrane ; Young Adult

Adult ; Arteriovenous Fistula ; diagnosis ; surgery ; Brain Abscess ; diagnosis ; surgery ; Humans ; Male ; Pulmonary Artery ; abnormalities ; surgery ; Pulmonary Veins ; abnormalities ; surgery

Right double inferior vena cava with obstructed retrocaval ureter is an extremely rare anomaly with only a few reported cases in the literature. To the best of our knowledge, this is the first case report describing ureteric repair by use of a single-incision laparoscopic technique. In addition, this report addresses the underlying surgical challenges of this repair and provides a brief review of the embryology of this anomaly. The "Santosh Postgraduate Institute ureteric tacking fixation technique" provides ease of end-to-end uretero-ureteric anastomosis in a single-incision laparoscopic surgery.
Humans ; Intraoperative Care/methods ; Intraoperative Complications/*prevention & control ; Laparoscopy/methods ; Magnetic Resonance Imaging ; Male ; *Retrocaval Ureter/diagnosis/physiopathology/surgery ; Treatment Outcome ; Urography/methods ; Urologic Surgical Procedures/*methods ; *Vena Cava, Inferior/abnormalities/surgery ; Young Adult

Accessory navicular source flatfoot is one of the foot deformity of clinical common disease,its treatment method is more controversial, differences in clinical efficacy of different surgical methods, according to accessory navicular source flatfoot symptoms of surgical treatment,there is no uniform standard, around a pair of accessory navicular excision how to reconstruct the arch produced a series of operation methods, the clinical curative effect of different operative methods produce also different, how to develop the operation strategy, choose operation method, and after acessory navicular excision whether to rebuild posterior tibial tendon, how to rebuild, the problems such as how to rebuild is the research hotspot and difficulty, looking forward to further research.
Flatfoot ; diagnosis ; surgery ; Foot Diseases ; surgery ; Humans ; Reconstructive Surgical Procedures ; methods ; Tarsal Bones ; abnormalities ; surgery