Dicentric X-isochromosome (Xqi dic) and pericentric inversion of No. 2 inv(2) (p15) q21) in a patient with gonadal dysgenesis

A patient with the clinical stigmata of gonadal dysgenesis is presented. Cytogenetic investigations revealed two distinct structural chromosome rearrangements. One of these, an isochromosome for the long arm of the X, proved to be a dicentric element following C-banding. The second abnormality, an inherited familial marker, was a pericentric inversion of No. 2 [(inv 2) (p15q21)].     

Association between atrial fibrillation and central sleep apnea

BACKGROUND: We previously described an association between atrial fibrillation and central sleep apnea in a group of patients with congestive heart failure. We hypothesized that the prevalence of atrial fibrillation might also be increased in patients with central sleep apnea in the absence of other cardiac disease. METHODS AND RESULTS: We compared the prevalence of atrial fibrillation in a series of 60 consecutive patients with idiopathic central sleep apnea (apnea-hypopnea index > 10 events per hour, > 50% central events) with that in 60 patients with obstructive sleep apnea (apnea-hypopnea index > 10, > 50% obstructive events) and 60 patients without sleep apnea (apnea-hypopnea index < 10), matched for age, sex, and body mass index. Subjects with a history of congestive heart failure, coronary artery disease, or stroke were excluded from the study. The prevalence of atrial fibrillation among patients with idiopathic central sleep apnea was found to be significantly higher than the prevalence among patients with obstructive sleep apnea or no sleep apnea (27%, 1.7%, and 3.3%, respectively, P < .001). However, hypertension was most common and oxygen desaturation most extreme among patients with obstructive sleep apnea. CONCLUSIONS: We conclude that there is a markedly increased prevalence of atrial fibrillation among patients with idiopathic central sleep apnea in the absence of congestive heart failure. Moreover, the high prevalence of atrial fibrillation among patients with idiopathic central sleep apnea is not explainable by the presence of hypertension or nocturnal oxygen desaturation, since both of these were more strongly associated with obstructive sleep apnea.     

Progressive dyspnea associated with a crazy-paving appearance on a chest computed tomography scan

A ‘crazy-paving’ appearance of the lungs on computed tomography scanning of the chest was first described nearly 20 years ago in patients with pulmonary alveolar proteinosis, and was thought to be characteristic of this condition. However, this pattern has subsequently been reported in a variety of pulmonary diseases and is now considered to be nonspecific. The present report describes a case of a 74-year-old man in whom congestive heart failure presented with a crazy-paving appearance of the lungs on a chest computed tomography scan. This uncommon association illustrates the importance of the correlation of clinical and radiographic information.     

Morphologic Studies in a Recently Described Dyserythropoietic State

Studies of fetal hemoglobin and bonemarrow ultrastructure were performedon a patient with a recently describedsyndrome consisting of lymphosarcoma, short stature, defective cellularimmunity, hypogammaglobulinemia,and mosaicism for a marker chromosome. Abnormalities of the erythroidcells, including multinucleated erythroblasts, nuclear bodies, megaloblasts,and frayed cytoplasm, were seen bylight microscopy. Ultrastructure confirmed the findings by light microscopy and showed in greater detailnuclear malformation, loss of nuclearmembrane, and loss of cytoplasmicbackground, as well as peculiar cytoplasmic inclusions. An increased levelof fetal hemoglobin (Hb F), rangingbetween 12%-15%, was detected. TheHb F was discreetly distributed, occurring in a small per cent of the redblood cells. It is speculated that aclone of chromosomally abnormalerythroid precursors might be responsible for producing the erythroblastswith the structural abnormalitiesdescribed and the erythrocytes withthe high hemoglobin F content.

Submitted on February 11, 1972 Revised on April 18, 1972 Accepted on May 10, 1972     

Lidocaine v bupivacaine in facial plastic surgery. A clinical trial

The ideal local anesthetic agent for facial plastic surgery should have rapid onset, good surgical anesthesia, and reasonably long duration. The purpose of this prospective, randomized, double-blind study was to compare 1% lidocaine hydrochloride with 1:200,000 epinephrine with 0.5% bupivacaine hydrochloride with 1:200,000 epinephrine, a newer, longer-acting local anesthetic, in different facial operations. The results suggest that bupivacaine is an effective and safe agent for these procedures.     

Addenda

We describe a female infant with manifestations of complete monosomy for chromosome 21 intrauterine growth retardation, failure to thrive, craniofacial anomalies, arthrogryposis-like features, and psychomotor retardation. Chromosome analysis demonstrated mosaicism for three different cell lines in the various tissues examined; 45,XX,–21/46,XX,del(21)(q11) 46,XX. The existence of these three lines suggests a possible explanation for the few cases of “complete monosomy 21” which have been reported.     

The distal semimembranosus complex: normal MR anatomy,variants, biomechanics and pathology

OBJECTIVE: To describe the normal MR anatomy and variations of the distal semimembranosus tendinous arms and the posterior oblique ligament as seen in the three orthogonal planes, to review the biomechanics of this complex and to illustrate pathologic examples. RESULTS AND CONCLUSION: The distal semimembranosus tendon divides into five tendinous arms named the anterior, direct, capsular, inferior and the oblique popliteal ligament. These arms intertwine with the branches of the posterior oblique ligament in the posterior medial aspect of the knee, providing stability. This tendon-ligamentous complex also acts synergistically with the popliteus muscle and actively pulls the posterior horn of the medial meniscus during knee flexion. Pathologic conditions involving this complex include complete and partial tears, insertional tendinosis, avulsion fractures and bursitis.     

A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies

We report a 4-year-old female with a de novo complex karyotype with multiple chromosomal rearrangements and a distinctive phenotype. Her medical history is significant for having been a twin born at 35 weeks gestation, breech presentation, with feeding problems and poor growth as an infant, gastroesophageal reflux disease, peripheral pulmonic stenosis, omphalocele, high myopia, and severe mental retardation. She is small for her age with microcephaly, posteriorly sloping forehead, shallow orbits, long palpebral fissures, prominent nose, wide mouth, absent uvula, kyphosis, brachydactyly, bridged palmar crease, and hypertonia. Peripheral blood lymphocytes revealed a karyotype of 46,XX,t(1;12)(p22.3;q21.3),inv(6)(p24q23),t(7;18)(q11.2;q21.2) in all cells. Parental karyotypes and that of her twin were normal. Spectral Karyotyping (SKY) and fluorescence in situ hybridization (FISH) with whole chromosome paints for chromosomes 1, 6, 7, 12, and 18 did not reveal additional rearrangements. Prometaphase G-banding analysis suggested that the "inverted" chromosome 6 might contain a cryptic rearrangement. Although no deletion nor duplication was detected using metaphase comparative genomic hybridization (CGH), multicolor high resolution banding (mBAND) demonstrated a double inversion of chromosome 6, resulting in a final karyotype as above but including der(6)(pter --> p23::q21 --> q22.3::q21 --> p23::q22.3 --> qter).     

Success of acupuncture treatment in patients with initially low sperm output is associated with a decrease in scrotal skin temperature

Poor spermatogenesis in patients with inflammation of the genital tract is associated with scrotal hyperthermia. These patients can benefit from acupuncture treatment. We conducted a study to verify whether the influence of acupuncture treatment on sperm output in patients with low sperm density is associated with a decrease in scrotal temperature. The experimental group included 39 men who were referred for acupuncture owing to low sperm output. The control group, which comprised 18 normal fertile men, was used to define a threshold (30.5°C) above which scrotal skin temperature was considered to be high. Accordingly, 34 of the 39 participants in the experimental group initially had high scrotal skin temperature; the other five had normal values. Scrotal skin temperature and sperm concentration were measured before and after acupuncture treatment. The five patients with initially normal scrotal temperatures were not affected by the acupuncture treatment. Following treatment, 17 of the 34 patients with hyperthermia, all of whom had genital tract inflammation, had normal scrotal skin temperature; in 15 of these 17 patients, sperm count was increased. In the remaining 17 men with scrotal hyperthermia, neither scrotal skin temperature nor sperm concentration was affected by the treatment. About 90% of the latter patients suffered from high gonadotropins or mixed etiological factors. Low sperm count in patients with inflammation of the genital tract seems to be associated with scrotal hyperthermia, and, consequently, acupuncture treatment is recommended for these men.