Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains

Abstract Background Whereas duplications in 11p15.5 covering both imprinting centers (ICs) and their subordinated genes account for up to 1% of Beckwith–Wiedemann and Silver–Russell syndrome patients (BWS, SRS), the deletions in 11p15.5 reported so far only affect one of the ICs. In these cases, not only the size and gene content had an impact on the phenotype, but also the sex of the contributing parent influences the clinical signs of the deletion carrier. Results We here report on the first case with a heterozygous deletion within the maternal allele affecting genes which are regulated by both ICs in 11p15.5 in a BWS patient, and describe the molecular and clinical consequences in case of its maternal or paternal inheritance. Conclusions The identification of a unique deletion affecting both 11p15.5 imprinting domains in a BWS patient illustrates the complexity of the regulation mechanisms in these key imprinting regions.

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First Case of Autochthonous Equine Theileriosis in Austria

Pathogens ◽

10.3390/pathogens10030298 ◽

2021 ◽

Vol 10 (3) ◽

pp. 298

Author(s):

Esther Dirks ◽

Phebe de Heus ◽

Anja Joachim ◽

Jessika-M. V. Cavalleri ◽

Ilse Schwendenwein ◽

...

Keyword(s):

Developmental Stages ◽

Elevated Serum ◽

Clinical Signs ◽

Dermacentor Reticulatus ◽

Theileria Equi ◽

Amyloid A ◽

First Case ◽

Blood Smears ◽

Eastern Austria ◽

Iatrogenic Transmission

A 23-year-old pregnant warmblood mare from Güssing, Eastern Austria, presented with apathy, anemia, fever, tachycardia and tachypnoea, and a severely elevated serum amyloid A concentration. The horse had a poor body condition and showed thoracic and pericardial effusions, and later dependent edema and icteric mucous membranes. Blood smear and molecular analyses revealed an infection with Theileria equi. Upon treatment with imidocarb diproprionate, the mare improved clinically, parasites were undetectable in blood smears, and 19 days after hospitalization the horse was discharged from hospital. However, 89 days after first hospitalization, the mare again presented to the hospital with an abortion, and the spleen of the aborted fetus was also PCR-positive for T. equi. On the pasture, where the horse had grazed, different developmental stages of Dermacentor reticulatus ticks were collected and subjected to PCR, and one engorged specimen was positive for T. equi. All three amplicon sequences were identical (T. equi genotype E). It is suspected that T. equi may repeatedly be transmitted in the area where the infected mare had grazed, and it could be shown that transmission to the fetus had occurred. Due to the chronic nature of equine theileriosis and the possible health implications of infection, it is advised to include this disease in the panel of differential diagnoses in horses with relevant clinical signs, including horses without travel disease, and to be aware of iatrogenic transmission from inapparent carrier animals.

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Acute upper airway obstruction as a life-threatening complication of ventral bulla osteotomy: report of two consecutive cases

Journal of Feline Medicine and Surgery Open Reports ◽

10.1177/20551169211005923 ◽

2021 ◽

Vol 7 (1) ◽

pp. 205511692110059

Author(s):

Michal Vlasin ◽

Richard Artingstall ◽

Barbora Mala

Keyword(s):

Airway Obstruction ◽

Clinical Signs ◽

Upper Airway ◽

Upper Airway Obstruction ◽

Single Session ◽

Inflammatory Polyp ◽

Case Summary ◽

First Case ◽

Life Threatening

Case summary This paper presents two cases of acute postoperative upper airway obstruction following ventral bulla osteotomy (VBO) in cats. The first cat underwent a unilateral left-sided VBO for a suspected inflammatory polyp. The second cat underwent a single-session bilateral VBO procedure for bilateral otitis media. In the first case, immediate re-intubation and a gradual lightening of the anaesthetic plane resolved the clinical signs; in the second case, the patient deteriorated and went into acute cardiorespiratory arrest and received cardiopulmonary resuscitation. Both patients recovered well and were discharged home 3 days after surgery. Both cases were reported to show no further clinical signs on postoperative follow-up 3 weeks and 4 months after surgery, respectively. Relevance and novel information Upper airway obstruction should be regarded as a potential complication of VBO in cats.

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Portland Cement Use in Dental Root Perforations: A Long Term Followup

Case Reports in Dentistry ◽

10.1155/2014/637693 ◽

2014 ◽

Vol 2014 ◽

pp. 1-5

Author(s):

Álvaro Henrique Borges ◽

Matheus Coelho Bandeca ◽

Mateus Rodrigues Tonetto ◽

Luis Augusto Faitaroni ◽

Elibel Reginna de Siqueira Carvalho ◽

...

Keyword(s):

Portland Cement ◽

Calcium Hydroxide ◽

Root Canal ◽

Clinical Signs ◽

Signs And Symptoms ◽

Clinical Aspects ◽

Iatrogenic Perforation ◽

Root Canals ◽

First Case ◽

Clinical Signs And Symptoms

Root canal and furcal perforations are causes of endodontic therapy failure and different materials that stimulate tissue mineralization have been proposed for perforation treatment. In the first case, a patient presented tooth 46 with unsatisfactory endodontic treatment and a periapical radiographic lesion. A radiolucent area compatible with a perforating internal resorption cavity was found in the mesial root. The granulation tissue was removed, and root canals were prepared. The intracanal medication was composed of calcium hydroxide and the perforation cavity was filled with Portland cement. The 11-year followup showed radiographic repair of the tissue adjacent to the perforation and absence of clinical signs and symptoms or periapical lesion. In the second case, a patient presented with edema on the buccal surface of tooth 46. The examination showed a radiolucent area in the furcation region compatible with an iatrogenic perforation cavity. The mesial root canals were calcified, and only the distal root canal was prepared. The cavity was filled with a calcium hydroxide-based paste and the distal root canal was obturated. In sequence, the perforation cavity was filled with Portland cement. The 9-year followup showed the tooth in masticatory function with radiographic and clinical aspects compatible with normality.

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Key-Gaskell syndrome in Brazil: first case report

Arquivo Brasileiro de Medicina Veterinária e Zootecnia ◽

10.1590/1678-6518 ◽

2014 ◽

Vol 66 (4) ◽

pp. 1046-1050

Author(s):

B.B.J. Torres ◽

G.C. Martins ◽

P.E. Ferian ◽

B.C. Martins ◽

M.A. Rachid ◽

...

Keyword(s):

Case Report ◽

Poor Prognosis ◽

Neuronal Degeneration ◽

Clinical Signs ◽

Definitive Treatment ◽

Autonomic Ganglia ◽

Nervous Systems ◽

First Case ◽

The World

Feline dysautonomia is a devastating disease characterized by neuronal degeneration in autonomic ganglia that results in clinical signs related to dysfunction of the sympathetic and parasympathetic nervous systems. The cause is unknown and this disease has a poor prognosis and no definitive treatment. Most reports have been described in few countries around the world, but the prevalence may be underestimated in countries like Brazil. This study describes the progression and clinicopathological changes of dysautonomia in a 17-month-old female Brazilian shorthair cat.

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Equine metabolic syndrome in Colombian creole horse: case report

Arquivo Brasileiro de Medicina Veterinária e Zootecnia ◽

10.1590/1678-4162-9119 ◽

2017 ◽

Vol 69 (5) ◽

pp. 1067-1072

Author(s):

C.A. Castillo ◽

C. Jaramillo ◽

M.J. Loaiza ◽

R. Blanco

Keyword(s):

Metabolic Syndrome ◽

Case Report ◽

Clinical Signs ◽

South American ◽

Adequate Treatment ◽

Endocrine Organ ◽

Equine Metabolic Syndrome ◽

First Case ◽

Combined Test ◽

Lack Of Exercise

ABSTRACT The equine metabolic syndrome is a condition that can be recognized because of obesity, insulin resistance and laminitis. Genetic factors could play a role in the occurrence of this syndrome. Certain breeds such as ponies (including the South American creole horses) have a lower sensibility to insulin and a higher prevalence of hyperinsulinemia. The environment and management conditions, such as overfeeding and lack of exercise are factors that bring a propensity for obesity. The adipose tissue works as an endocrine organ producing hormones (adipokines or adipocytokines) that affect the horse´s metabolism. The objective of this report is to describe the first case report of a Colombian creole mare with a metabolic syndrome, diagnosed by means of the combined test of glucose-insulin and clinical signs. Early diagnosis of this entity and an adequate treatment are useful for improving the life and the zootechnical conditions of the patient.

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Salmonella enterica subspecies houtenae as an opportunistic pathogen in a case of meningoencephalomyelitis and bacteriuria in a dog

BMC Veterinary Research ◽

10.1186/s12917-020-02652-5 ◽

2020 ◽

Vol 16 (1) ◽

Author(s):

Melissa N. Andruzzi ◽

Mary L. Krath ◽

Sara D. Lawhon ◽

Beth Boudreau

Keyword(s):

Salmonella Enterica ◽

Bacterial Infections ◽

Opportunistic Infections ◽

Treatment Success ◽

Immunosuppressive Treatment ◽

Clinical Signs ◽

Opportunistic Pathogen ◽

First Case ◽

Disease Diagnostics ◽

Infectious Disease Diagnostics

Abstract Background We report the first case of canine Salmonella meningoencephalomyelitis and second case of canine Salmonella bacteriuria, as well as the first reported case of Salmonella enterica subspecies houtenae in a dog. Case presentation Immunosuppressive treatment in a dog for a relapse of steroid-responsive meningitis and arteritis (SRMA) allowed for the opportunistic establishment of a bacteremia with Salmonella enterica subsp. houtenae, ultimately causing meningoencephalomyelitis and subclinical bacteriuria. The bacterial infections were treated with a four-month course of amoxicillin; clinical treatment success was determined by serial negative urine cultures and lack of clinical signs correlated to the meningoencephalomyelitis. Conclusions Both the bacteriuria and meningoencephalomyelitis represented opportunistic infections in a dog immunosuppressed for SRMA. The clinical course of this infectious meningoencephalitis emphasizes the importance of differentiating relapse of initial disease from opportunistic infection occurring in a compromised central nervous system. The novel Salmonella species identified in this case acts as a reminder that infectious disease diagnostics should not be curbed by anecdotal prediction of routine pathogenic suspects.

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Thyrotoxic Periodic Paralysis—A Misleading Challenge in the Emergency Department

Diagnostics ◽

10.3390/diagnostics10050316 ◽

2020 ◽

Vol 10 (5) ◽

pp. 316 ◽

Cited By ~ 1

Author(s):

Stefana Bilha ◽

Ovidiu Mitu ◽

Laura Teodoriu ◽

Cristian Haba ◽

Cristina Preda

Keyword(s):

Clinical Signs ◽

Initial Therapy ◽

Periodic Paralysis ◽

The Other ◽

Motor Deficit ◽

Antithyroid Drugs ◽

Thyrotoxic Periodic Paralysis ◽

First Case ◽

Life Threatening ◽

Antithyroid Agents

Despite its’ life-threatening potential due to cardiac severe dysrhythmia in the context of severe hypokalemia, thyrotoxic periodic paralysis (TPP) often goes unrecognized. Although classically confined to young Asian men, it can occur irrespective of age, sex, and race. We report a short series of three cases of TPP as first presentation of Graves’ disease in a young Caucasian male and in two Caucasian elderly and middle-aged women, respectively. The first patient developed malignant ventricular arrhythmias due to severe hypokalemia and was defibrillated, with recovery after prompt potassium correction and administration of antithyroid agents and propranolol. The other two cases developed persistent hypokalemia despite adequate potassium chloride (KCl) repletion, with slow recovery of motor deficit and serum potassium normalization up to day 5. In the first case, long-term euthyroid state was achieved via total thyroidectomy due to the presence of a suspicious nodule that proved to be malignant. In the other two cases, medical treatment was the choice of therapy for thyrotoxicosis. None experienced recurrent TPP. Thyroid hormone evaluation is mandatory in the presence of hypokalemic paralysis, even in the absence of clinical signs of thyrotoxicosis. If TPP is confirmed, initial therapy should comprise antithyroid drugs and propranolol, besides hypokalemia correction.

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Early detection of brainstem herniation using electroencephalography monitoring – case report

BMC Neurology ◽

10.1186/s12883-020-01988-7 ◽

2020 ◽

Vol 20 (1) ◽

Author(s):

Naresh Mullaguri ◽

Jonathan M. Beary ◽

Christopher R. Newey

Keyword(s):

Blood Flow ◽

Cerebral Blood Flow ◽

Obstructive Hydrocephalus ◽

Multiorgan Failure ◽

Clinical Signs ◽

Quantitative Electroencephalography ◽

First Case ◽

Cerebral Herniation ◽

Brainstem Herniation ◽

Injured Patients

Abstract Background Continuous electroencephalography (cEEG) is an important neuromonitoring tool in brain injured patients. It is commonly used for detection of seizure but can also be used to monitor changes in cerebral blood flow. One such event that can cause a change in cerebral blood flow is imminent, cerebral herniation. cEEG monitoring and quantitative electroencephalography (QEEG) can be used as neurotelemetry to detect cerebral herniation prior to onset of clinical signs. Case presentation We discuss two cases highlighting the use of cEEG in cerebral herniation accompanied by clinical examination changes. The first case is a patient with multiorgan failure and intracerebral hemorrhage (ICH). Given his coagulopathy status, his ICH expanded. The second case is a patient with intraventricular hemorrhage and worsening obstructive hydrocephalus. In both cases, the cEEG showed increasing regional/lateralized slowing. The Quantitative electroencephalography (QEEG) showed a decrease in frequencies, worsening asymmetry, decreasing amplitude and increasing burst suppression ratio corresponding with the ongoing herniation. Clinically, these changes on cEEG preceded the bedside neurological changes by up to 1 h. Conclusions The use of cEEG to monitor patients at high risk for herniation syndromes may identify changes earlier than bedside clinical exam. This earlier identification may allow for an earlier opportunity to intervene.

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Quetiapine Therapy for Posttraumatic Stress Disorder

Annals of Pharmacotherapy ◽

10.1345/aph.1c040 ◽

2002 ◽

Vol 36 (12) ◽

pp. 1875-1878 ◽

Cited By ~ 18

Author(s):

S Pirzada Sattar ◽

Bernadette Ucci ◽

Kathleen Grant ◽

Subhash C Bhatia ◽

Frederick Petty

Keyword(s):

Posttraumatic Stress Disorder ◽

Posttraumatic Stress ◽

English Language ◽

Rating Scale ◽

Stress Disorder ◽

Traumatic Event ◽

Treatment Options ◽

Clinical Signs ◽

Ptsd Symptoms ◽

First Case

OBJECTIVE: To report a case of improvement in posttraumatic stress disorder (PTSD) after adjunctive therapy with quetiapine. CASE SUMMARY: A 49-year-old white man witnessed a traumatic event and experienced severe PTSD. He was started on paroxetine, with increases in dosage and no significant improvement. Quetiapine was added to his regimen, with increased doses resulting in improvement of PTSD symptoms, both clinically and as measured on the Hamilton-D rating scale for depression and the clinician-administered PTSD screen. DISCUSSION: This is the first case published in the English language literature describing improvement in PTSD symptoms after treatment with quetiapine. There are several treatment options for PTSD, but some severe cases may require treatment with antipsychotic medications. Because of the lower risks of serious adverse effects, the newer atypical antipsychotics are much safer than the older antipsychotics. Although use of risperidone and olanzapine in the successful treatment of PTSD has been reported in the literature, there are no reports of quetiapine use in this clinical condition. CONCLUSIONS: Quetiapine appeared to improve clinical signs and symptoms of PTSD in this patient. It may be a treatment option in other severe cases of PTSD.

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Immunological and clinical consequences of treating a patient with natalizumab

Multiple Sclerosis Journal ◽

10.1177/1352458511421919 ◽

2011 ◽

Vol 18 (3) ◽

pp. 335-344 ◽

Cited By ~ 30

Author(s):

Nicholas Schwab ◽

Karin G Höhn ◽

Tilman Schneider-Hohendorf ◽

Imke Metz ◽

Max-Philipp Stenner ◽

...

Keyword(s):

T Cells ◽

T Cell ◽

Jc Virus ◽

Clinical Signs ◽

Brain Biopsy ◽

Cell Receptor ◽

Term Therapy ◽

Cell Repertoire ◽

Csf Analysis ◽

Clinical Consequences

Background: Long-term therapy with natalizumab increases the risk of progressive multifocal leukoencephalopathy (PML). Objectives: We present a patient study through therapy, the diagnosis of PML (after 29 infusions), plasma exchange (PE) and development of immune reconstitution inflammatory syndrome (IRIS). Methods: Routine diagnostics, magnetic resonance imaging (MRI), immunological status (flow cytometry, T-cell migration assays and T-cell repertoire analysis), and brain biopsy with immunohistological analysis. Results: CD49d decreased after 12 months of treatment. At PML diagnosis, CD49d expression and migratory capacity of T cells was low and peripheral T-cell receptor (TCR) complexity showed severe perturbations. The distribution of peripheral monocytes changed from CCR5+ to CCR7+. After PE some changes reverted: CD49d increased and overshot earliest levels, migratory capacities of T cells recovered and peripheral TCR complexity increased. With no clinical, routine laboratory or cerebrospinal fluid (CSF) changes, MRI 2 months after PE demonstrated progressive lesion development. Brain histopathology confirmed the presence of infiltrates indicative of IRIS without clinical signs, immunologically accompanied by CCR7/CCR5 recovery of peripheral monocytes. Conclusion: Natalizumab-associated immunological changes accompanying PML were reversible after PE; IRIS can occur very late, remain asymptomatic and be elusive to CSF analysis. Our study may provide insights into the changes under treatment with natalizumab associated with JC virus control.

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