Targeted disruption of the Hoxb-2 locus in mice interferes with expression of Hoxb-1 and Hoxb-4

Development ◽  
1996 ◽  
Vol 122 (12) ◽  
pp. 3817-3828 ◽  
Author(s):  
J.R. Barrow ◽  
M.R. Capecchi
Keyword(s):  
Facial Nerve ◽  
Facial Paralysis ◽  
Body Wall ◽  
Clinical Signs ◽  
Mutant Mice ◽  
Moebius Syndrome ◽  
Targeted Disruption ◽  
Neonatal Lethality ◽  
Motor Component ◽  
In Cis

Mice with a disruption in the hoxb-2 locus were generated by gene targeting. 75% of the hoxb-2 mutant homozygotes died within 24 hours of birth. While a majority of these mice had severe sternal defects that compromised their ability to breathe, some had relatively normal sternum morphology, suggesting that one or more additional factor(s) contributed to neonatal lethality. At 3–3.5 weeks of age, half of the remaining hoxb-2 homozygotes became weak and subsequently died. All of the mutants that survived to 3 weeks of age showed marked facial paralysis similar to, but more severe than, that reported for hoxb-1 mutant homozygotes (Goddard, J. M., Rossel, M., Manley, N. R. and Capecchi, M. R. (1996) Development 122, 3217–3228). As for the hoxb-1 mutations, the facial paralysis observed in mice homozygous for the hoxb-2 mutation results from a failure to form the somatic motor component of the VIIth (facial) nerve which controls the muscles of facial expression. Features of this phenotype closely resemble the clinical signs associated with Bell's Palsy and Moebius Syndrome in humans. The sternal defects seen in hoxb-2 mutant mice are similar to those previously reported for hoxb-4 mutant mice (Ramirez-Solis, R., Zheng, H., Whiting, J., Krumlauf, R. and Bradley. A. (1993) Cell 73, 279–294). The above results suggest that the hoxb-2 mutant phenotype may result in part from effects of the hoxb-2 mutation on the expression of both hoxb-1 and hoxb-4. Consistent with this proposal, we found that the hoxb-2 mutation disrupts the expression of hoxb-1 in cis. In addition, the hoxb-2 mutation changes the expression of hoxb-4 and the hoxb-4 mutation, in turn, alters the pattern of hoxb-2 expression. Hoxb-2 and hoxb-4 appear to function together to mediate proper closure of the ventral thoracic body wall. Failure in this closure results in severe defects of the sternum.

scholarly journals Mice with targeted disruption of Hoxb-1 fail to form the motor nucleus of the VIIth nerve

Development ◽  
1996 ◽  
Vol 122 (10) ◽  
pp. 3217-3228 ◽  
Author(s):  
J.M. Goddard ◽  
M. Rossel ◽  
N.R. Manley ◽  
M.R. Capecchi
Keyword(s):  
Animal Model ◽  
Facial Nerve ◽  
Mutant Mice ◽  
Clinical Profile ◽  
Human Diseases ◽  
Motor Nucleus ◽  
Moebius Syndrome ◽  
Targeted Disruption ◽  
Adult Mice ◽  
Motor Component

Mice were generated with targeted disruptions in the hoxb-1 gene. Two separate mutations were created: the first disrupts only the homeodomain and the second inactivates the first exon as well as the homeodomain. The phenotypes associated with these two mutant alleles are indistinguishable in surviving adult mice. The predominant defect in these mutant mice is a failure to form the somatic motor component of the VIIth (facial) nerve, possibly through a failure to specify these neurons. The phenotype of hoxb-1 mutant homozygotes closely resembles features of the clinical profile associated with humans suffering from Bell's Palsy or Moebius Syndrome. These animals should therefore provide a useful animal model for these human diseases.

scholarly journals Congenital unilateral facial palsy revealing a facial nerve agenesis: a case report and review of the literature

2019 ◽  
Vol 5 (1) ◽  
pp. 20180029
Author(s):  
Yaotse Elikplim Nordjoe ◽  
Ouidad Azdad ◽  
Mohamed Lahkim ◽  
Laila Jroundi ◽  
Fatima Zahrae Laamrani
Keyword(s):  
Case Report ◽  
Facial Nerve ◽  
Temporal Bone ◽  
Facial Paralysis ◽  
Facial Palsy ◽  
Rare Condition ◽  
Review Of The Literature ◽  
Moebius Syndrome ◽  
Temporal Bone Ct

Facial nerve aplasia is an extremely rare condition that is usually syndromic, namely, in Moebius syndrome. The occurrence of isolated agenesis of facial nerve is even rarer, with only few cases reported in the literature. We report a case of congenital facial paralysis due to facial nerve aplasia diagnosed on MRI, while no noticeable abnormality was detected on the temporal bone CT.

scholarly journals Neoplastic causes of nonacute facial paralysis: A review of 221 cases

2016 ◽  
Vol 95 (9) ◽  
pp. 390-396 ◽  
Author(s):  
John P. Leonetti ◽  
Sam J. Marzo ◽  
Douglas A. Anderson ◽  
Joshua M. Sappington
Keyword(s):  
Facial Nerve ◽  
Facial Paralysis ◽  
Medical Center ◽  
Demographic Data ◽  
Academic Medical Center ◽  
Tertiary Care ◽  
Clinical Signs ◽  
Surgical Approaches ◽  
Facial Weakness ◽  
Gradual Onset

We conducted a retrospective review to assess the clinical presentation of patients with tumor-related nonacute complete peripheral facial weakness or an incomplete partial facial paresis and to provide an algorithm for the evaluation and management of these patients. Our study population was made up of 221 patients—131 females and 90 males, aged 14 to 79 years (mean: 49.7)—who had been referred to the Facial Nerve Disorders Clinic at our tertiary care academic medical center over a 23–year period with a documented neoplastic cause of facial paralysis. In addition to demographic data, we compiled information on clinical signs and symptoms, radiologic and pathologic findings, and surgical approaches. All patients exhibited gradual-onset facial weakness or facial twitching. Imaging identified an extratemporal tumor in 128 patients (58%), an infratemporal lesion in 55 patients (25%), and an intradural mass in 38 (17%). Almost all of the extratemporal tumors (99%) were malignant, while 91 % of the infratemporal and intradural tumors were benign. A transtemporal surgical approach was used in the 93 infratemporal and intradural tumor resections, while the 128 extratemporal lesions required a parotidectomy with partial temporal bone dissection. The vast majority of patients (97%) underwent facial reanimation. We conclude that gradual-onset facial paralysis or twitching may occur as a result of a neoplastic invasion of the facial nerve along its course from the cerebellopontine angle to the parotid gland. We caution readers to beware of a diagnosis of “atypical Bell's palsy.”

Syndromes Associated with Congenital Facial Paralysis

1981 ◽  
Vol 89 (2) ◽  
pp. 336-342 ◽  
Author(s):  
Lavonne Bergstrom ◽  
Bruce B. Baker
Keyword(s):  
Facial Nerve ◽  
Facial Paralysis ◽  
Hemifacial Microsomia ◽  
Associated Anomalies ◽  
Moebius Syndrome ◽  
Intrauterine Environment ◽  
Facial Clefts ◽  
Sensorineural Loss

Thirty-five of 1,488 pediatric otologic cases had congenital facial nerve weakness. A cause was generally not found, but two probably had nuclear dysgenesis; one may have had an intracanalicular lesion; two cases resulted from teratogens, one from poor intrauterine environment, and three from genetic complications. Five had total unilateral paralysis; one had bilateral palsy. Frequent associated anomalies were microtia-atresia, hemifacial microsomia, facial clefts, Moebius syndrome, and congenital conductive sensorineural loss.

scholarly journals Facial Paralysis Secondary to Hypothyroidism in a Dog

2016 ◽  
Vol 44 (1) ◽  
pp. 4
Author(s):  
Rafael Oliveira Chaves ◽  
Bruna Copat ◽  
João Pedro Scussel Feranti ◽  
Dênis Antonio Ferrarin ◽  
Marcelo Luis Schwab ◽  
...  
Keyword(s):  
Facial Nerve ◽  
Inner Ear ◽  
Facial Paralysis ◽  
Thyroid Function ◽  
Neurological Disorders ◽  
Clinical Signs ◽  
Levothyroxine Sodium ◽  
Laboratory Evaluation ◽  
The Face ◽  
The Right

Background: Secondary neurological disorders hypothyroidism is unusual in dogs, especially when compared with other clinical signs, such as lethargy, weight gain and dermatological alterations. When manifested, these signals refer to the peripheral or central nervous system and the most common include: vestibular disease, seizures, laryngeal paralysis, poly­neuropathy and paralysis of the facial nerve. Several reports of neurological disorders associated with hypothyroidism are found in literature, basically international. In the national literature, however, there are few reports on the subject. Thus, the aim of this study was to report a case of facial paralysis associated with hypothyroidism in a dog.Case: A male canine, the boxer race, with 7-year-old were referred to the Veterinary Medical Teaching Hospital of the UFSM with a history of difficult water and food intake and asymmetry of the face for seven days. On neurological ex­amination, the animal found itself alert and locomotion, postural reactions and segmental reflexes without changes. In the evaluation of the cranial nerves, there was a menace response absent the right side, however with preserved vision, palpebral and lip ptosis of the right side and reflection palpebral absent on the same side. Opposite the historical, clinical, neurological and laboratory test findings, the diagnosis was facial paralysis secondary to hypothyroidism. As differential diagnoses were listed, inner otitis neoplasm in inner ear, trauma and idiopathic facial paralysis. After the diagnosis, clini­cal treatment was instituted with levothyroxine sodium, at a dose of 0.02 mg kg orally every 12 h, being observed total improvement of clinical signs (no changes for water intake and food, menace response and reflection palpebral normal and symmetry of the face) in 32 days.Discussion: The diagnosis of facial paralysis associated with hypothyroidism was based on the history, clinical and neurological examination findings, laboratory assessment of thyroid function by observing low serum free T4 and high concentrations of TSH, the therapeutic response after supplementation levothyroxine sodium, and exclusion of other pos­sible causes, such as otitis interna and traumatic. The pathogenesis of this change associated with hypothyroidism is not completely understood, although it is believed that cranial nerve paralysis (trigeminal, facial and vestibulocochlear) may result from the resulting compression of myxedema deposit nerve or in the tissues of the head and neck, demyelination caused by disordered metabolism of Schwann cells, decreased blood perfusion of the inner ear secondary to hyperlipidemia and increased blood viscosity or metabolic defects ranging from change in axonal transport to severe axonal loss. Treatment consists of supplementation of levothyroxine and most dogs with neurological disorders associated with hypothyroidism will present partial or total improvement of clinical signs between two and four months, generally being observed improve­ment within the first week of treatment. In the dog this report, after the beginning of treatment, improvement was observed partial and total clinical signs in 15 and 32 days, respectively. Therefore, with appropriate treatment, hypothyroidism is a disease with an excellent prognosis. The report brings to clinical relevance, the importance of hypothyroidism in the dif­ferential diagnosis of facial paralysis in dogs with face asymmetry history, the laboratory evaluation of thyroid function and response to therapy with levothyroxine sodium supplementation essential for definitive diagnosis. Keywords: neurology, facial nerve, peripheral neuropathy, dogs.

Acute Otitis Media and Facial Paralysis in Children

1996 ◽  
Vol 105 (1) ◽  
pp. 58-62 ◽  
Author(s):  
Clark A. Elliott ◽  
George H. Zalzal ◽  
Wendy R. Gottlieb
Keyword(s):  
Facial Nerve ◽  
Otitis Media ◽  
Facial Paralysis ◽  
Acute Otitis Media ◽  
Complete Recovery ◽  
Rapid Improvement ◽  
Nerve Decompression ◽  
Complete Paralysis ◽  
Prolonged Recovery ◽  
Facial Nerve Decompression

We reviewed 10 children who presented with facial paralysis after the onset of acute otitis media. The objective of the study was to examine the outcome of facial paralysis in children with acute otitis media treated without facial nerve decompression. Two groups were identified: 8 patients with incomplete paralysis and 2 with complete paralysis. Seven of the 8 patients with incomplete paralysis had rapid return of function after myringotomy and intravenous antibiotics. The eighth patient had delayed recovery requiring 9 months before complete return of function. The 2 patients with complete paralysis required mastoidectomy to control otorrhea and fever after initial myringotomy and antibiotics. Both patients had a prolonged recovery requiring 3 and 7 months for complete recovery. Patients with incomplete paralysis generally show rapid improvement following wide myringotomy and antibiotic treatment. A more protracted recovery may be expected in patients with complete paralysis; excellent return of function is expected when mastoidectomy without facial nerve decompression is employed.

Facial Nerve Paralysis Induced by Herpes Simplex Virus in Mice: An Animal Model of Acute and Transient Facial Paralysis

1995 ◽  
Vol 104 (7) ◽  
pp. 574-581 ◽  
Author(s):  
Toshiaki Sugita ◽  
Yasuo Fujiwara ◽  
Shingo Murakami ◽  
Yoshinari Hirata ◽  
Naoaki Yanagihara ◽  
...  
Keyword(s):  
Herpes Simplex Virus ◽  
Herpes Simplex ◽  
Facial Nerve ◽  
Facial Paralysis ◽  
Bell’S Palsy ◽  
Facial Nerve Paralysis ◽  
Bell's Palsy ◽  
Vacuolar Degeneration ◽  
Nerve Paralysis ◽  
Simplex Virus

We have been the first to succeed in producing an acute and transient facial paralysis simulating Bell's palsy, by inoculating herpes simplex virus into the auricles or tongues of mice. The KOS strain of the virus was injected into the auricle of 104 mice and the anterior two thirds of the tongue in 30 mice. Facial paralysis developed between 6 and 9 days after virus inoculation, continued for 3 to 7 days, and then recovered spontaneously. The animals were painlessly sacrificed between 6 and 20 days after inoculation for histopathologic and immunocytochemical study. Histopathologically, severe nerve swelling, inflammatory cell infiltration, and vacuolar degeneration were manifested in the affected facial nerve and nuclei. Herpes simplex virus antigens were also detected in the facial nerve, geniculate ganglion, and facial nerve nucleus. The pathophysiologic mechanisms of the facial paralysis are discussed in light of the histopathologic findings, in association with the causation of Bell's palsy.

scholarly journals Therapeutic Evaluation of Navan Nasya in Ardit W.S.R. to Facial Paralysis

2018 ◽  
Vol 8 (5) ◽  
pp. 284-287
Author(s):  
Neeraj Kanungo ◽  
Vijayata Kanungo
Keyword(s):  
Facial Nerve ◽  
Facial Paralysis ◽  
Facial Palsy ◽  
Cellular Level ◽  
Facial Muscles ◽  
Therapeutic Evaluation ◽  
Permanent Loss

Ayurveda is sciences of medicine and health practicing anciently and it possessing effective methods for the treatment of various diseases. Ayurveda not only offer approaches for the management of curable diseases but also encompasses knowledge of incurable diseases. Panchakarma is one of the therapies of ayurveda which purify body and cleans all shrotas even at cellular level. Panchakarma therapy involves many sub therapies such as; Navannasya which is very useful in the management of various diseases such as; facial paralysis which involves weakness of facial muscles resulting from temporary or permanent loss of facial nerve. The study was planned to measure efficacy of navannasya in the treatment of Arditroga and it was found that navannasya gives good results in Ardit or facial paralysis. Some patient of cured effectively after the treatment with Navannasya. Keywords: Ayurveda, Ardit, Facial Palsy, Panchakarma, Navannasya.

scholarly journals Rehabilitation of a Patient with Bell’s Palsy

2021 ◽  
Vol 10 (20) ◽  
pp. 1551-1554
Author(s):  
Vrushali K. Athawale ◽  
Dushyant P. Bawiskar ◽  
Pratik Arun Phansopkar
Keyword(s):  
Herpes Simplex ◽  
Facial Nerve ◽  
Facial Paralysis ◽  
Nerve Palsy ◽  
Facial Nerve Palsy ◽  
Bell’S Palsy ◽  
Pharmacological Therapy ◽  
Bell's Palsy ◽  
Facial Reanimation ◽  
Simplex Virus

Facial nerve palsy is the disease of cranial nerve. From the total number of cases, 60 to 75 % of Bell's palsy cases are idiopathic form of facial palsy. Facial nerve palsy results in weakness of facial muscles, atrophy, asymmetry of face and also disturbs the quality of life. Bell’s palsy occurs in every class of population affecting people of all the age groups but the most common age group affected is 15 - 50 years with equal sex prediliction accounting 11 - 40 cases per 100,000. If facial palsy is not treated properly then it may result in variety of complications like motor synkinesis, dysarthria, contractures of facial muscles, and crocodile tear. Currently facial paralysis treatment consists of combination of pharmacological therapy, facial neuromuscular re-entrainment physiotherapy or surgical intervention by static and dynamic facial reanimation techniques. Physiotherapy treatment is effective for treating facial paralysis with minimal complications and can be individualized. Bell's palsy is the idiopathic form of facial nerve palsy which accounts for 60 to 75 % of cases and male to female ratio is 1:3.1 The aetiology of facial paralysis is not yet thoroughly understood. Cases of varicella-zoster, mononucleosis, herpes simplex virus, mumps and measles have demonstrated good serology in several reports for their association but still stands unclear. 2 Peripheral facial nerve palsy may be idiopathic (primary cause) or Bell’s palsy (secondary). Causes of the secondary unilateral facial nerve palsy are diabetes, stroke, Hansen's disease, herpes simplex infection, birth injury, trauma, tumour, Guillain-Barre syndrome, and immune system disorders. Causes of the bilateral facial nerve palsy are leukemia, brainstem encephalitis, leprosy, and meningitis. The most prominent current theories of facial nerve paralysis pathophysiology include the reactivation of herpes simplex virus infection (HSV type 1). Current facial paralysis treatment consists of a combination of pharmacological therapy, facial neuromuscular re-entrainment physiotherapy or surgical intervention by dynamic and static facial reanimation techniques.7 This is a diagnosed case of right facial nerve palsy which was treated under physiotherapy department with proper rehabilitation protocol.

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