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Genes Jul 2022The human capacity to speak is fundamental to our advanced intellectual, technological and social development. Yet so very little is known regarding the evolutionary...
The human capacity to speak is fundamental to our advanced intellectual, technological and social development. Yet so very little is known regarding the evolutionary genetics of speech or its relationship with the broader aspects of evolutionary development in primates. In this study, we describe a large family with evolutionary retrograde development of the larynx and wrist. The family presented with severe speech impairment and incremental retrograde elongations of the pisiform in the wrist that limited wrist rotation from 180° to 90° as in primitive primates. To our surprise, we found that a previously unknown primate-specific gene had been disrupted in the family. emerged de novo in an ancestor of extant primates across a 540 kb region of the genome with a pre-existing highly conserved long-range laryngeal enhancer for a neighbouring bone morphogenetic protein gene . We used transgenic mouse modelling to identify two additional long-range enhancers within that regulate expression in the wrist. Disruption of in the affected family blocked the transcription of across the 3 enhancers in association with a reduction in expression and retrograde development of the larynx and wrist. Furthermore, we describe how developed a human-specific promoter through the expansion of a penta-nucleotide direct repeat that first emerged de novo in the promoter of in gibbon. This repeat subsequently expanded incrementally in higher hominids to form an overlapping series of Sp1/KLF transcription factor consensus binding sites in human that correlated with incremental increases in the promoter strength of with human having the strongest promoter. Our research indicates a dual evolutionary role for the incremental increases in transcriptional interference of enhancers in the incremental evolutionary development of the wrist and larynx in hominids and the human capacity to speak and their retrogression with the reduction of transcription in the affected family.
Topics: Animals; Biological Evolution; Growth Differentiation Factor 6; Humans; Mice; Primates; Regulatory Sequences, Nucleic Acid; Speech
PubMed: 35885978
DOI: 10.3390/genes13071195 -
Journal of Nippon Medical School =... 2015The purpose of this study was to describe and evaluate the detailed anatomic locations and areas of ligamentous attachments and paths of the transverse carpal ligament...
PURPOSE
The purpose of this study was to describe and evaluate the detailed anatomic locations and areas of ligamentous attachments and paths of the transverse carpal ligament (TCL) on a three-dimensional (3-D) surface model.
METHODS
Ten fresh-frozen cadaver wrists were used to dissect and identify the TCL. Their ligament attachments and whole bone surfaces were digitized three-dimensionally and their areas evaluated. The attachments of each ligament were represented in a model combining CT surfaces overlaid by a digitized 3-D surface, and were also visually depicted with a different color for each on 3-D images of the bones.
RESULTS
The TCL was found to be composed of two or three discrete ligaments. Both the trapezium-hook of hamate ligament and the trapezium-pisiform ligament were identified in all ten specimens. The scaphoid-pisiform ligament was found in only two of the ten specimens. The average areas of the attachments of the TCL were 42.7 mm(2) on the trapezium, 30.0 mm(2) on the hook of hamate, 21.6 mm(2) on the pisiform, and 12.7 mm(2) on the scaphoid.
CONCLUSIONS
The anatomic 3-D attachment sites of the TCL were visually shown qualitatively, and their areas quantified. This 3-D information offers further knowledge and understanding of the anatomy and biomechanics of the TCL. It could also help in the accurate assessment of radiographic images and treatment of various wrist injuries and diseases when performing such procedures as carpal tunnel release, Guyon's canal release, trapeziectomy, hook of hamate excision, or arthroscopy.
Topics: Aged; Carpal Joints; Female; Humans; Imaging, Three-Dimensional; Ligaments, Articular; Male; Middle Aged; Wrist
PubMed: 26156666
DOI: 10.1272/jnms.82.130 -
Hand (New York, N.Y.) Jun 2015An isolated fracture of the pisiform bone is a rare condition, especially in children. The fracture may be missed in the emergency department because of the complex...
An isolated fracture of the pisiform bone is a rare condition, especially in children. The fracture may be missed in the emergency department because of the complex anatomy of the carpal region. Early diagnosis and treatment are, however, important for the functional outcome of the patient, since untreated dislocated carpal fractures may result in nonunion. We report one case of a 9-year-old boy with an unrecognized fracture of the pisiform bone who underwent a pisiformectomy 10 months after injury due to a nonunion of the pisiform bone. Good results were obtained and the wrist did not show any functional impairment.
PubMed: 26034450
DOI: 10.1007/s11552-014-9613-2 -
Annals of Medicine and Surgery (2012) Feb 2022Several studies have been conducted on the variations and branching pattern of the ulnar nerve in the hand. There are few studies conducted on defining the distance of...
OBJECTIVES
Several studies have been conducted on the variations and branching pattern of the ulnar nerve in the hand. There are few studies conducted on defining the distance of ulnar nerve from bony landmarks in the palm. Ulnar nerve is closely related to the pisiform and hook of hamate which act as important landmarks.
METHODS
The study was conducted on 30 formalin fixed adult hand specimens in the department of Anatomy. Various measurements related to the ulnar nerve in the palm were taken using a divider and Vernier Calipers and the values were tabulated after obtaining the mean and standard deviation.
RESULTS
The average distance seen in the hand specimens [n = 30] from pisiform to the division of ulnar nerve into superficial and deep branch was 0.89 ± 0.25cm and the distance between pisiform bone up to the division of superficial branch of ulnar nerve into proper and common digital branches was 1.36 ± 0.59 cm. The average distance from the origin of proper digital branch of ulnar nerve to the head of fifth metacarpal bone was 5.25 ± 0.59 cm. The length of common digital branch of ulnar nerve from its origin to division into 2 sensory branches was 4.31 ± 1.09 cm.
CONCLUSION
This study provides the metric parameters of the ulnar nerve in the hand from its significant bony landmarks which should be kept in mind during surgical procedures to minimize the incidence of injury to its branches. It would assist the orthopedic surgeon in the treatment of ulnar nerve compression in the Guyon's canal.
PubMed: 35145657
DOI: 10.1016/j.amsu.2022.103259 -
Revista Espanola de Cirugia Ortopedica... 2021Osteochondroma is the most common bone tumour, which appears most commonly in the long bones. However, cases have been described in the scaphoid, capitate, lunate,...
Osteochondroma is the most common bone tumour, which appears most commonly in the long bones. However, cases have been described in the scaphoid, capitate, lunate, trapezium, and trapezoid bones, which can be a cause of pain in the hand and wrist. Osteochondromas can occur concomitantly with other traumatic or degenerative processes or generate complications in adjacent structures. Below we present an osteochondroma in the pisiform bone associated with pisotriquetral osteoarthritis.
PubMed: 32605850
DOI: 10.1016/j.recot.2020.05.006 -
Journal of Physical Therapy Science Sep 2016[Purpose] The aim of this study was to investigate the usefulness of ultrasonography for the diagnosis of polyneuropathy in diabetic patients by examination of the...
[Purpose] The aim of this study was to investigate the usefulness of ultrasonography for the diagnosis of polyneuropathy in diabetic patients by examination of the median and ulnar nerves. [Subjects and Methods] Sixty-three diabetic patients and fourteen controls were enrolled in the study. Nerve conduction studies were performed on both upper and lower limbs. Median and ulnar nerve cross-sectional areas were measured at the wrist and forearm levels in 140 hands by ultrasound. [Results] The median nerve cross-sectional area was increased at the hook of hamatum, pisiform bone, and radioulnar joint levels in patients with carpal tunnel syndrome. The ulnar nerve area at the medial epicondyle was significantly increased in the diabetic polyneuropathy (9.2 ± 1.6), diabetic polyneuropathy plus carpal tunnel syndrome (9.3 ± 1.4), and carpal tunnel syndrome (9.2 ± 1.9) groups compared with the control group (7.7 ± 1.1). In receiver operating characteristics analysis, the cutoff value of the ulnar nerve was 8.5 mm at ulnar epicondyle with 71.4% specificity and 70.4% sensitivity, corresponding to the highest diagnostic accuracy for diabetic polyneuropathy. [Conclusion] Ultrasonographic examination of the median and ulnar nerves can be an alternative or additional diagnostic modality for the evaluation of neuropathies in diabetic patients.
PubMed: 27799707
DOI: 10.1589/jpts.28.2620 -
Cureus Sep 2023Isolated pisiform dislocation is an uncommon condition, with a limited number of cases reported in the literature. We present a unique case of a 15-year-old male who...
Isolated pisiform dislocation is an uncommon condition, with a limited number of cases reported in the literature. We present a unique case of a 15-year-old male who experienced an atraumatic isolated dislocation of the pisiform bone in his left wrist and presented with pain, deformity, and ulnar nerve palsy in his little and ring fingers. Radiographic investigations confirmed the diagnosis of isolated pisiform dislocation, and the patient successfully underwent an open reduction, stabilization of pisiform, and exploration of the ulnar nerve.
PubMed: 37900515
DOI: 10.7759/cureus.46042 -
Annals of Rehabilitation Medicine Dec 2016To investigate the relationship between electrodiagnosis and various ultrasonographic findings of carpal tunnel syndrome (CTS) and propose the ultrasonographic standard...
OBJECTIVE
To investigate the relationship between electrodiagnosis and various ultrasonographic findings of carpal tunnel syndrome (CTS) and propose the ultrasonographic standard that has closest consistency with the electrodiagnosis.
METHODS
Ultrasonography was performed on 50 female patients (65 cases) previously diagnosed with CTS and 20 normal female volunteers (40 cases). Ultrasonography parameters were as follows: cross-sectional area (CSA) and flattening ratio (FR) of the median nerve at the levels of hamate bone, pisiform bone, and lunate bone; anteroposterior diameter (AP diameter) of the median nerve in the carpal tunnel; wrist to forearm ratio (WFR) of median nerve area at the distal wrist crease and 12 cm proximal to distal wrist crease; and compression ratio (CR) of the median nerve. Independent t-test was performed to compare the ultrasonographic findings between patient and control groups. Significant ultrasonographic findings were compared with the electrodiagnosis results and a kappa coefficient was used to determine the correlation.
RESULTS
CSA and FR of median nerve at the hamate bone level, CSA of median nerve at pisiform bone level, AP diameter of median nerve within the carpal tunnel, CSA of median nerve at the distal wrist crease and WFR showed significant differences between patient and control groups. WFR showed highest concordance with electrodiagnosis (κ=0.71, p<0.001).
CONCLUSION
These findings suggested the applicability of ultrasonography, especially WFR, as a useful adjunctive tool for diagnosis of CTS.
PubMed: 28119834
DOI: 10.5535/arm.2016.40.6.1040 -
The Archives of Bone and Joint Surgery 2023A retrospective study was conducted to evaluate the diagnostic accuracy of a novel examination technique, the 'Pisiform Boost Test,' in diagnosing a triangular...
BACKGROUND
A retrospective study was conducted to evaluate the diagnostic accuracy of a novel examination technique, the 'Pisiform Boost Test,' in diagnosing a triangular fibrocartilage complex (TFCC) tear.
METHODS
Wrist arthroscopies performed between 2011-2021 were retrospectively reviewed. Patients' clinical records were evaluated to determine the result of the Pisiform Boost Test during clinical examination and TFCC tear within the body of the TFCC as seen at wrist arthroscopy. The Pisiform Boost Test is performed by first assessing for ulna fovea pain on passive ulna deviation of the wrist and then assessing pain while the clinician applies digital pressure over the pisiform and passive ulna deviation.
RESULTS
The pisiform Boost test was found to have a Sensitivity of 91% (95% CI, 81 - 97%) and a Specificity of 33% (95% CI, 14-59%) for the diagnosis of TFCC tears. Positive predictive value of 83%, a negative predictive value of 50%, and an accuracy of 78%. A chi-square test of independence was performed to examine the relation between a Positive Pisiform Boost Test and an arthroscopy-confirmed TFCC tear. The relation between these two variables was statistically significant, x2 (1, N = 82) = 6.4551, .
CONCLUSION
The Pisiform Boost Test demonstrates high sensitivity for TFCC tears (0.91). Specificity (0.33) is similar to that in the ulnar grinding test. Therefore, we propose this test be utilized with additional special tests for ulna-side wrist pain to allow clinicians to build a diagnostic picture, aiding decision-making and patient information.
PubMed: 37168823
DOI: 10.22038/ABJS.2022.67029.3188 -
Trauma Case Reports Aug 2024A 31-year-old woman had a seizure episode three weeks before, leading to a fall on her left hand. Following the accident, she had discomfort on the ulnar side of her...
A 31-year-old woman had a seizure episode three weeks before, leading to a fall on her left hand. Following the accident, she had discomfort on the ulnar side of her left wrist. She decided to seek treatment from a local bone setter; however, her hand discomfort continued and she then came to us for treatment. The radiography and computed tomography scan demonstrated a pisiform dislocation. The pisiform bone was surgically removed. The pisiform dislocation should be considered in the differential diagnosis of the ulnar side wrist discomfort following wrist trauma.
PubMed: 38799028
DOI: 10.1016/j.tcr.2024.101039