Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9.9 Mb and 1.9 Mb, respectively. The duplication of chromosome 7 contained 68 known genes, of which 3 are related with entries in the Developmental Disorders Genotype-to-Phenotype (DDG2P) database. The deletion of chromosome 9 contained 6 known genes, of which 2 are in the DDG2P database. We investigated the genotype and phenotype in this patient, and reviewed the relevant literatures for possible clinical presentation in these variations.
Child ; Chromosome Disorders ; Chromosomes, Human, Pair 7 ; Chromosomes, Human, Pair 9 ; Comparative Genomic Hybridization ; Developmental Disabilities ; Genotype ; Humans ; Male ; Microcephaly ; Nose ; Phenotype

OBJECTIVE: To evaluate Korean physiatrists' practice of performing intramuscular botulinum toxin injection in anticoagulated patients and to assess their preference in controlling the bleeding risk before injection. METHODS: As part of an international collaboration survey study, a questionnaire survey was administered to 100 Korean physiatrists. Physiatrists were asked about their level of experience with botulinum toxin injection, the safe international normalized ratio range in anticoagulated patients undergoing injection, their tendency for injecting into deep muscles, and their experience of bleeding complications. RESULTS: International normalized ratio <2.0 was perceived as an ideal range for performing Botulinum toxin injection by 41% of the respondents. Thirty-six respondents replied that the international normalized ratio should be lowered to sub-therapeutic levels before injection, and 18% of the respondents reported that anticoagulants should be intentionally withheld and discontinued prior to injection. In addition, 20%-30% of the respondents answered that they were uncertain whether they should perform the injection regardless of the international normalized ratio values. About 69% of the respondents replied that they did have any standardized protocols for performing botulinum toxin injection in patients using anticoagulants. Only 1 physiatrist replied that he had encountered a case of compartment syndrome. CONCLUSION: In accordance with the lack of consensus in performing intramuscular botulinum toxin injection in anticoagulated patients, our survey shows a wide range of practices among many Korean physiatrists; they tend to avoid botulinum toxin injection in anticoagulated patients and are uncertain about how to approach these patients. The results of this study emphasize the need for formulating a proper international consensus on botulinum toxin injection management in anticoagulated patients.
Anticoagulants ; Botulinum Toxins* ; Compartment Syndromes ; Consensus ; Cooperative Behavior ; Surveys and Questionnaires ; Hemorrhage ; Humans ; Injections, Intramuscular* ; Intention ; International Normalized Ratio ; Muscles

OBJECTIVE: To identify the anatomical motor points of the abductor hallucis muscle in cadavers. METHODS: Motor nerve branches to the abductor hallucis muscles were examined in eight Korean cadaver feet. The motor point was defined as the site where the intramuscular nerve penetrates the muscle belly. The reference line connects the metatarsal base of the hallux (H) to the medial tubercle of the calcaneus (C). The x coordinate was the horizontal distance from the motor point to the point where the perpendicular line from the navicular tuberosity crossed the reference line. The y coordinate was the perpendicular distance from the motor point to the navicular tuberosity. RESULTS: Most of the medial plantar nerves to the abductor hallucis muscles divide into multiple branches before entering the muscles. One, two, and three motor branches were observed in 37.5%, 37.5%, and 25% of the feet, respectively. The ratios of the main motor point from the H with respect to the H-C line were: main motor point, 68.79%±5.69%; second motor point, 73.45%±3.25%. The mean x coordinate value from the main motor point was 0.65±0.49 cm. The mean value of the y coordinate was 1.43±0.35 cm. All of the motor points of the abductor hallucis were consistently found inferior and posterior to the navicular tuberosity. CONCLUSION: This study identified accurate locations of anatomical motor points of the abductor hallucis muscle by means of cadaveric dissection, which can be helpful for electrophysiological studies in order to correctly diagnose the various neuropathies associated with tibial nerve components.
Cadaver* ; Calcaneus ; Electromyography ; Foot ; Hallux ; Metatarsal Bones ; Muscles ; Tibial Nerve

We found that an error in wording in the abstract should be corrected.

We found that an error in wording in the abstract should be corrected.