Genetic predisposition to fetal and neonatal cancer

Background Neonatal tumors represent an extremely rare and heterogeneous disease with an unknown etiology. Due to its early onset, it has been proposed that genetic factors could play a critical role; however, germline genetic analysis is not usually performed in neonatal cancer patients Patients and methods To improve the identification of cancer genetic predisposition syndromes, we retrospectively review clinical characteristics in 45 patients with confirmed tumor diagnosis before 28 days of age, and we carried out germline genetic analysis in 20 patients using next-generation sequencing and directed sequencing. Results The genetic studies did not find any germline mutation except patients diagnosed with bilateral retinoblastoma who harbored RB1 germline mutations. Conclusions Our results suggest that genetic factors have almost no higher impact in most neonatal tumors. However, since the heterogeneity of the tumors and the small sample size analyzed, we recommend complementary and centralized germline studies to discard the early onset as an additional criterion to take into account to improve the identification of cancer genetic predisposition syndromes in neonates (AU)

Genetic predisposition to fetal and neonatal cancer.

BACKGROUND: Neonatal tumors represent an extremely rare and heterogeneous disease with an unknown etiology. Due to its early onset, it has been proposed that genetic factors could play a critical role; however, germline genetic analysis is not usually performed in neonatal cancer patients PATIENTS AND METHODS: To improve the identification of cancer genetic predisposition syndromes, we retrospectively review clinical characteristics in 45 patients with confirmed tumor diagnosis before 28 days of age, and we carried out germline genetic analysis in 20 patients using next-generation sequencing and directed sequencing. RESULTS: The genetic studies did not find any germline mutation except patients diagnosed with bilateral retinoblastoma who harbored RB1 germline mutations. CONCLUSIONS: Our results suggest that genetic factors have almost no higher impact in most neonatal tumors. However, since the heterogeneity of the tumors and the small sample size analyzed, we recommend complementary and centralized germline studies to discard the early onset as an additional criterion to take into account to improve the identification of cancer genetic predisposition syndromes in neonates.

Etiology of post-uterosacral suspension neuropathies.

INTRODUCTION AND HYPOTHESIS: The goal of our investigation was to find a neurological explanation for neuropathies reported following some uterosacral ligament suspension (USLS) [2-3]. METHODS: We dissected the neural structures beneath the USL in seven female, adult, embalmed cadavers. We made a literature review to determine the spinal nerve sensory fiber composition of each exposed neural structure and the dermatome(s) that it innervates. We then compared anticipated sensory neuropathies for each neural structure with neuropathies following USLS to determine which neural structure entrapment could explain the reported symptoms. RESULTS: Several neural structures located beneath the uterosacral ligament (USL) are vulnerable to suture entrapment during USLS. Anticipated clinical outcomes of entrapments are discussed. CONCLUSIONS: Entrapment of S2 sensory fibers in the second trunk of the sacral plexus or in the intrapelvic portion of the sciatic nerve is the most plausible etiology for reported neuropathies following USLS.

Attachment of the rectovaginal septum to the pelvic sidewall.

OBJECTIVE: To describe the lateral attachment of the rectovaginal fascia to the pelvic sidewall. STUDY DESIGN: A descriptive study was performed with use of 10 embalmed female cadaveric pelves, each sectioned in the midsagittal plane. The lateral attachments of the pubocervical fascia and the rectovaginal fascia to the pelvic sidewall were examined. RESULTS: The rectovaginal fascia attaches to the pelvic sidewall along a well-defined line. It extends from the perineal body toward the arcus tendineus fasciae pelvis with which it converges approximately midway between the pubis and the ischial spine to form a y configuration. This point of convergence occurs an average of 4.8 cm from the ischial spine, 3.75 cm from the pubic symphysis, and 4.15 cm from the posterior fourchette. CONCLUSION: The rectovaginal fascia supports the posterior compartment analogous to the pubocervical fascia in the anterior compartment. Moreover, landmarks are identified that will aid suture placement during repair of posterior compartment defects.

Uterosacral ligament: description of anatomic relationships to optimize surgical safety.

OBJECTIVE: To determine the optimal site in the uterosacral ligament for suspension of the vaginal vault with regard to adjacent anatomy and suspension strength. METHODS: Fifteen female cadavers were evaluated between December 1998 and September 1999. Eleven hemisected pelves were dissected to better define the uterosacral ligament and identify adjacent anatomy. Ureteral pressure profiles with and without relaxing incisions were done on four fresh specimens. Suture pullout strengths also were assessed in the uterosacral ligament. RESULTS: The uterosacral ligament was attached broadly to the first, second, and third sacral vertebrae, and variably to the fourth sacral vertebrae. The intermediate portion of the uterosacral ligament had fewer vital, subjacent structures. The mean +/- standard deviation distance from ureter to uterosacral ligament was 0.9 +/- 0.4, 2.3 +/- 0.9, and 4.1 +/- 0.6 cm in the cervical, intermediate, and sacral portions of the uterosacral ligament, respectively. The distance from the ischial spine to the ureter was 4.9 +/- 2.0 cm. The ischial spine was consistently beneath the intermediate portion but variable in location beneath the breadth of the ligament. Uterosacral ligament tension was transmitted to the ureter, most notably near the cervix. The cervical and intermediate portions of the uterosacral ligament supported more than 17 kg of weight before failure. CONCLUSION: Our findings suggest that the optimal site for fixation is the intermediate portion of the uterosacral ligament, 1 cm posterior to its most anterior palpable margin, with the ligament on tension.

Medial portion of M. Temporalis and its potential involvement in facial pain.

We describe the morphology, functional capabilities, and clinical anatomical implications of the medial portion of the temporalis muscle. Although recognized in Brazilian, German, French, and Hispanic American textbooks of anatomy, this portion of the temporalis has been unappreciated in those published in England and the United States. Given its morphology, and functional anatomy as revealed in this paper, we conclude that the medial portion of the temporalis could entrap the maxillary nerve and its zygomatic branches inside the pterygopalatine fossa. On these bases we identify this portion of the temporalis as a possible factor in the etiology of some forms of tic douloureux.

The role of lip configuration in monkey vocalizations: experiments using xylocaine as a nerve block.

Human and nonhuman primates commonly alter the configuration of their lips during vocal production and thereby modify vocal tract length and shape. In nonhuman primates, however, the effects of lip configuration on call structure are unknown. This study was designed to investigate the importance of lip configuration in rhesus monkey (Macaca mulatta) vocal production by temporarily blocking lip movement with injections of xylocaine. For "coo" vocalizations, an affiliative contact call that is normally produced with protruded lips, the xylocaine treatment had no statistically significant effect on call duration or characteristics of the fundamental frequency (i.e., features associated with respiration and laryngeal function). However, the two formant frequencies (i.e., features resulting from the filtering properties of the supralaryngeal cavity) of the call were significantly effected. Specifically, formant frequencies increased, as would be expected from an individual incapable of compensating for a shortened vocal tract. In contrast to coos, xylocaine had no statistically significant effect on the acoustic structure of "noisy screams," a call given in response to being attacked by a dominant and produced with retracted lips (i.e., a shortened vocal tract). Results suggest that for some vocalizations, lip configuration may be essential for achieving the intended acoustic target, whereas for other vocalizations, it is less important.

Positional behavior and limb bone adaptations in red howling monkeys (Alouatta seniculus).

Morphological adaptations to climbing (a scansorial mode of quadrupedal, arboreal locomotion practised on twigs and small branches) are identified by relating anatomical details of limb bones to a sample of 6,136 instantaneous observational recordings on the positional behavior and support uses of 20 different free-ranging, adult red howlers. Our findings are used to infer the original habitat in which proto-red howlers may have acquired such adaptations and to hypothesize that climbing and its related anatomy are a primitive condition for anthropoids.

Loud calls of adult male red howling monkeys (Alouatta seniculus).

Loud calls of adult male red howlers (Alouatta seniculus) inhabiting a deciduous and semideciduous open woodland site in Venezuela were recorded opportunistically and categorized by ear and sonographically as barks and roars. Five to six different bark syllables were identified as occurring singly or in sequences of doublets and triplets. In barks, spectral energy was concentrated in bands at 350-400 Hz, 900-1,100 Hz, 1,800-2,200 Hz and 3,000-3,500 Hz, but not all higher bands were present in each syllable. Roars appeared sonographically like prolonged barks composed of a pulsated preface, a long legato climax and a brief, fractionated and at times pulsated coda; each part varied internally to the ear and in acoustic structure. All loud calls were of the noisy type (nonharmonic energy over a broad frequency range). Acoustic characteristics of the calls are interpreted in terms of the subserving vocal tract anatomy. I compare loud calls of red howlers with those of mantled (A. palliata) and black (A. caraya) howlers.

Locomotion and postures of red howlers in a deciduous forest-savanna interface.

Positional (postural and locomotor) patterns and substrates used by the seven adults of a free-ranging troop of red howling monkeys (Alouatta seniculus) were identified and sampled during their feeding and resting. Traveling patterns and substrates were noted but not quantified. Arboreal locomotor behaviors were pronograde quadrupedalism, some leaping, bridging, lowering, and pull up. Sitting and reclining were the most frequent postures. Tail suspension and arboreal bipedal stance were used when feeding. Predominant locomotor behaviors were those in which limbs appeared to be compression stressed. There were no limbs suspensions. The monkeys used the entire tree canopy, that of the low shrubs, and did a good deal of travel on the ground. The lack of forelimb suspension is attributed to the inability of these howlers to hang beneath supports and look forward at the same time; the impediment is created by the size of the vocal organs in the neck. The locomotion of these monkeys is offered to depict that of Aegyptopithecus zeuxis.

Non-metric features in the ulna of Aegyptopithecus, Alouatta, Ateles, and Lagothrix.

A comparison of the non-metric features of the ulnar fragment (YPM 23940) referred to Aegyptopithecus zeuxis with those in the same bone of Alouatta, Ateles, and Lagothrix -- the three living taxa whose ulnae most closely resemble that of the fossil -- reveals that the closest similarities of the fragment are with the ulna of Alouatta.