Congenital short tail in Macaca mulatta.

In a captive Macaca mulatta breeding colony, a single family group with 39 animals showed 19 individuals being born with dramatic tail shortening. Through clinical, genealogical, radiographic, and cytogenetic evaluation, it was related to a probable dominant autosomal inheritance of the reduction in the number of distal caudal vertebrae.

Mutational analysis of BFSP1, CRYBB1, GALK1, and GJA8 in captive-bred vervet monkeys (Chlorocebus aethiops).

BACKGROUND: Congenital cataract has been reported in a colony of captive-bred vervet monkeys (Chlorocebus aethiops). METHODS: Molecular tools such as genotyping and gene expression were used to identify mutations associated with congenital cataract in this vervet colony. Beaded filament structural protein 1 (BFSP1), beta-crystallin B1 (CRYBB1), galactokinase1 (GALK1), and gap junction alpha-8 protein (GJA8) were screened, sequenced, and analyzed for mutations in 24 vervet monkeys (control and cataract). RESULTS: Five missense sequence variants were identified (V147E, A167P, L212F, N55K, and T247A), three of which were found to be potentially disease-causing. Furthermore, downregulation was observed in BFSP1, CRYBB1, and GALK1 genes. CONCLUSION: This study reports two cases of incomplete penetrance and/or uniparental disomy (L212F and T247A) in BSFP1. Mutations in BSFP1 together with three mutations in GALK1 and GJA8 were predicted to be disease-causing.

Perosomus elumbis in a stillborn rhesus macaque (Macaca mulatta): A case report.

Perosomus Elumbis (PE) is a rare congenital disorder characterized by absence of caudal spine (lumbar, sacral, and coccygeal vertebrae). Here, we present the first reported case of PE in a rhesus macaque (Macaca mulatta) and relate our findings to those described in other species.

Preserved extrastriate visual network in a monkey with substantial, naturally occurring damage to primary visual cortex.

Lesions of primary visual cortex (V1) lead to loss of conscious visual perception with significant impact on human patients. Understanding the neural consequences of such damage may aid the development of rehabilitation methods. In this rare case of a Rhesus macaque (monkey S), likely born without V1, the animal's in-group behaviour was unremarkable, but visual task training was impaired. With multi-modal magnetic resonance imaging, visual structures outside of the lesion appeared normal. Visual stimulation under anaesthesia with checkerboards activated lateral geniculate nucleus of monkey S, while full-field moving dots activated pulvinar. Visual cortical activation was sparse but included face patches. Consistently across lesion and control monkeys, functional connectivity analysis revealed an intact network of bilateral dorsal visual areas temporally correlated with V5/MT activation, even without V1. Despite robust subcortical responses to visual stimulation, we found little evidence for strengthened subcortical input to V5/MT supporting residual visual function or blindsight-like phenomena.

Facial dysplasia in wild forest olive baboons (Papio anubis) in Sebitoli, Kibale National Park, Uganda: Use of camera traps to detect health defects.

BACKGROUND: Primate populations are in decline, mainly affected by agriculture leading to habitat loss, fragmentation but also chemical pollution. Kibale National Park (Uganda), Sebitoli forest, surrounded by tea and crop fields, is the home range of chimpanzees presenting congenital facial dysplasia. This study aimed to identify to what extent the same phenotypical features are observed in baboons (Papio anubis) of this area. METHODS: A total of 25 390 clips recorded by 14 camera traps between January 2017 and April 2018 were analyzed. RESULTS: We identified 30 immature and adult baboons of both sexes with nose and lip deformities. They were more frequently observed in the northwestern part of the area. CONCLUSIONS: A possible effect of pesticides used in crops at the border of their habitat is suspected to alter the embryonic development. This study emphasizes the importance of non-invasive methods to detect health problems in wild primates that can act as sentinels for human health.

Atresia Ani with Imperforate Anus in a Common Marmoset (Callithrix jacchus).

In November 2015, an 83-d-old juvenile male common marmoset (Callithrix jacchus) in good body condition was found dead in his family cage with no previous premonitory signs. Necropsy revealed a gas-distended abdomen, feces-distended large bowel, and a full-thickness distal colonic perforation resulting in fecal peritonitis. The distal colon ended in a blind pouch at 7 mm prior to the expected anal opening, consistent with atresia ani. Here we present this case, briefly discuss the human and veterinary literature regarding correction of anorectal malformations, and highlight the importance of identifying such devastating congenital defects in breeding colonies while limiting the disruption and handling of seemingly healthy, young NHP raised in a complex social setting.

Developmental and family history-based analysis of congenital fused labia phenotype in the captive common marmoset (Callithrix jacchus).

BACKGROUND: Congenital fused labia (CFL) is defined as a failure or significant delay in the opening of the juvenile sealed labia majora. This phenotype is known to be variably common in adult captive female marmosets but has never been investigated in detail before. MATERIALS AND METHODS: Here, we define, describe and quantify the variations in the degree of closure of the vulva in 122 captive marmosets (Callithrix jacchus) from 1.2 to 42 months old and include colony analysis. RESULTS: There was a negative correlation between the degree of labial fusion and animal age after prepubertal period (P < 0.05). CFL females had higher number CFL relatives (4.3 ± 0.6 vs 2.4 ± 0.5 for non-CFL, P < 0.05) and more external ancestors compared to non-CFL (P < 0.05). CONCLUSIONS: Our results therefore suggest that CFL phenotype is most likely associated with epigenetic effects induced by the captive environment and colony management strategy of extensive crossing of family lines to promote heterozygosity.

Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops).

BACKGROUND: The aim of the study was to evaluate the genetic predisposition of congenital cataract in a colony of captive-bred vervet monkeys. METHODS: Four congenital cataract genes: glucosaminyl (N-acetyl) transferase 2 (GCNT2), heat shock transcription factor 4 (HSF4), crystallin alpha A (CRYAA) and lens intrinsic membrane protein-2 (LIM2) were screened, sequenced and analysed for possible genetic variants in 36 monkeys. Gene expression was also evaluated in these genes. RESULTS: Fifteen sequence variants were identified in the coding regions of three genes (GCNT2, HSF4 and CRYAA). Of these variations, only three were missense mutations (M258V, V16I and S24N) and identified in the GCNT2 transcripts A, B and C, respectively, which resulted in a downregulated gene expression. CONCLUSION: Although the three missense mutations in GCNT2 have a benign effect, a possibility exists that the candidate genes (GCNT2, HSF4 and CRYAA) might harbour mutations that are responsible for total congenital cataract.

Testicular Fibrous Hypoplasia in Cynomolgus Monkeys ( Macaca fascicularis): An Incidental, Congenital Lesion.

Testicular fibrous hypoplasia is an incidental lesion characterized by replacement of the testicular parenchyma by mature collagen. A retrospective survey of hematoxylin and eosin-stained testicular sections from 722 purpose-bred Asian and 90 Mauritian cynomolgus monkeys from 56 safety assessment studies conducted between 1999 and 2011 was performed. The incidence of the lesion increased markedly over time. No cases occurred between 1999 and 2004. Between 2005 and 2009, the incidence ranged between 8.1% and 11.0% of the monkeys examined and then rose to 26.1% in 2010 and 30.9% in 2011. Overall, the lesion was identified in 10.94% of Asian monkeys with the highest incidence in animals originating from China and Vietnam; severity ranged from minimal to severe and it occurred unilaterally (38.5%) and bilaterally (61.5%). In Mauritian monkeys, the lesion was predominantly minimal in severity, bilateral in distribution, and affected 6.6% of the animals examined. The lesion occurred regardless of sexual maturation status but when present in mature monkeys was often associated with cystic tubular atrophy of the seminiferous epithelium. Based on the morphological characteristics of the lesion and the unilateral/bilateral distribution, the lesion is considered to be a congenital or developmental abnormality.

Spontaneous unilateral renal dysplasia in a clinically healthy cynomolgus monkey (Macaca fascicularis).

Renal dysplasia is a congenital renal malformation characterized by disruption of normal renal development with asynchronous differentiation of nephrons, collecting ducts, and parenchyma and abnormal patterning of cortical and medullary tissues. The present article describes unilateral renal dysplasia discovered in a cynomolgus monkey from a routine toxicology study. The affected kidney was small and characterized by extensive interstitial fibrosis with the formation of fibromuscular collars around glomeruli and tubules, immature nephrons, and persistent mesenchyme encompassing few collecting ducts. The present case is remarkable in that there is a paucity of reports describing histopathologic findings of spontaneously occurring renal dysplasia in preclinical test species for use in large animal toxicity studies.

Congenital malformations in Japanese macaques (Macaca fuscata) at Takasakiyama.

From the late 1960s to the early 1970s, many congenitally malformed infants were born into provisioned Japanese macaque troops. Although the exact cause of this problem was not determined, the occurrence of malformations decreased thereafter. We examined possible factors such as total population size, number of adult females, birth rate, and volume of provisioned food. Agrichemicals attached to provisioned food are suspected as the main cause, as other factors were found to have no influence. Many more malformations were seen in males compared with females, in feet compared with hands, and in the fourth compared with other digits. We confirmed that the frequency of congenital malformation was high during the 1960s through to the mid-1970s when increased levels of provisioned food were given and that the incidence of congenital malformations was also elevated among wild macaques during this time.

Absence of the right wing of the ilium generated a compensatory scoliosis in rhesus monkey in captivity: diagnostic imaging and its alteration on the SEPNT.

BACKGROUND: Congenital scoliosis (CS) is defined as lateral curvatures of the spine provoked by the anomalous development of the vertebral bodies. It is associated with neuromuscular anomalies, which can be genetic, caused by the compensation of discrepancies in the length of the extremities or intrarachidian anomalies. METHODS: This study was carried out in 2-year-old female, showed alterations in the gait, mainly in the hind limbs, a clumsy gait and a slight claudication in the right hindlimb. To perform the imaging study were: X-Ray projections and Computerized Axial Tomography, neurophysiological evaluation was performed by means somatosensory-evoked potentials of the tibial nerve (SEPTN). RESULTS: The results showed an enlargement of the latencies from the L5 to the cortex, mainly in the left afference, correlated with the imaging studies. CONCLUSIONS: There is no doubt that the concurrent use of different diagnostic tools complements knowledge regarding the physiopathogenesis of these osteopathologies.

Congenital cystic adenomatoid-like malformation in a cynomolgus monkey (Macaca fascicularis).

Congenital cystic adenomatoid malformation (CCAM) is a developmental lung abnormality characterized by abnormal proliferation of mesenchymal elements and failure of bronchiolar structures to mature, ultimately resulting in the compression of normal pulmonary tissue and mediastinal shift with rapid expansion of cysts. Although various clinical and pathologic studies of CCAM in humans exist, CCAM has yet to be reported in animals, even in nonhuman primates. In the present study, histopathologic analyses of a neonatal cynomolgus monkey that died 17 days after birth revealed that normal lung architecture was replaced by disorganized overgrowths of cysts lined with simple cuboidal epithelium. The epithelium projected a few ciliates into the air spaces and produced mucus. To our knowledge, this is the first case study describing CCAM or a CCAM-like lesion in nonhuman primates.

Two cases of adreno-hepatic fusion in cynomolgus monkeys (Macaca fascicularis).

In this report we describe 2 cases of adreno-hepatic fusion (AHF) in Cynomolgus monkeys (Macaca fascicularis) used in short-term toxicity studies. AHF is defined as the union of hepatic tissue with the adrenal gland with close intermingling of the respective parenchymal cells. In this condition, a continuous intervening connective tissue septum is lacking. AHF is believed to be a congenital anomaly caused by a defect or delay in the formation of the organ capsules from the intermediate primitive mesenchymal stroma. To our knowledge, this is the first time this anomaly is described in the monkey.

Congenitally caused fused labia in the common marmoset (Callithrix jacchus).

In this paper, the occurrence of an external genital abnormality in female marmoset monkeys (fused labia) is discussed. This malformation was detected, for the first time, in a group of animals at the German Primate Center (GPC), Goettingen. The malformed vulva was completely sealed except for an opening of 1.5-2.5 mm around the urethra sufficient for urination. Because of this defect the animals were not able to copulate. As a consequence, the affected females were functionally infertile although they had a normal genital tract and a regular cycle. This vulvar abnormality was found in 12 females, offspring of 10 pairs in which either one or both came to the German Primate Center from two genetically related colonies in Munich, Germany, and one colony in Basel, Switzerland. The abnormality appeared to be recessive and inheritable from either parent. In pairs in which both animals were from one of the mentioned colonies, 45% of the female offspring were affected. In pairs where only one partner came from these colonies, 26% of female offspring had the malformation. These results indicate that avoidance of inbreeding, which is frequently performed in primate colonies, may reduce, but not eliminate the expression of abnormalities of genetic origin. Therefore selective breeding is required, and, in colonies where these recessive mutations are widespread, the development of genetic screening tests would be advantageous.

Perineal urinary bladder diverticulum resulting in partial urinary obstruction in a rhesus monkey.

A 16-year-old rhesus monkey with perineal swelling and urinary obstruction was found to have a congenital urinary bladder diverticulum. Because the diverticulum was located at the trigone, its distention partially obstructed the urethra, resulting in incomplete voiding. The diverticulum was resected and did not redevelop.

Pachyonychia congenita-like disorder in cotton-top tamarins (Saguinus oedipus oedipus).

A spontaneous genodermatosis in 13 cotton-top tamarins is described as a retrospective study. The disease appeared as alopecia, pigmentary disturbances, and claw dystrophy similar but not identical to human Pachyonychia congenita. The disease in the tamarins seems to be inherited as an autosomal recessive trait, becoming clinically apparent around adolescence. In certain families the neonatal mortality rate was also above average, reaching 100%.

Spontaneously occurring congenital polycystic kidney in a cynomolgus monkey (Macaca fascicularis).

Congenital polycystic kidney disease was diagnosed at necropsy in a stillborn male cynomolgus monkey (Macaca fascicularis). This case was very similar to infantile polycystic kidney disease in man and the rhesus monkey, except that no increase in number of intrahepatic bile ducts was observed.

Congenital malformations and twinning in a breeding colony of Old World monkeys.

Clinical and necropsy records of malformations in Old World monkeys were compiled. The numbers of malformations and birth incidence rate for each species were: Rhesus macaque (Macaca mulatta) 3 (1.02%); Cynomolgus macaque (Macaca fascicularis) 11 (1.62%); Stumptail macaque (Macaca arctoides) 3 (1.55%); African green monkey (Cercopithecus aethiops) 4 (1.5%). There was one pair of rhesus twins (twinning rate: 0.34%). Cardiovascular and central nervous system lesions accounted for 55% of all malformations. Only two of the malformations were in inbred infants. Nine of twenty-one colony-born malformed infants lived 24 hours or more.