Histochemical and immunohistological approach to comparative neuromuscular diseases.

The broad category of neuromuscular diseases covers conditions that involve the weakness or wasting of the body muscles. These problems may occur in the spinal cord, the peripheral nerves or the muscle fibers. Some may be hereditary, while others are acquired. Commonly recognized conditions fall into the categories of myopathies, which are diseases of the muscle like muscular dystrophy, disorders of the junction where the nerve impulses are transmitted to the muscle like myasthenia gravis, and neuropathies, which are diseases of the peripheral nervous system. The diagnosis of most neuromuscular diseases rest on careful clinical evaluation of the patient, electromyography, the muscle biopsy, and in some instances, molecular genetic studies. Muscle biopsy, associated to histochemical and immunohistological techniques, plays a key role in diagnosis of many neuromuscular disorders. A number of morphological abnormalities of muscle can be recognized on histological stains such as haematoxylin and eosin and Engel trichrome. Histochemical techniques are essential for the study of muscle biopsies for four main reasons. First, they demonstrate the non-uniform nature of the muscle highlighting the different biochemical properties of specific fibre type and their selective involvement in certain disease processes. Second, they may show an absences of a particular enzyme. Third, an excess of a particular substrate can be demonstrated. Fourth, they may show structural changes in the muscle which would not be apparent with routine histological stains, such as the enzyme-deficient cores in central core disease "mouth-eaten" fibers, and abnormalities in the distribution of mitochondria. In some neuromuscular disorders there could be only non-specific myopathological features. However, a number of proteins, including sarcolemmal, sarcomeric, and nuclear proteins as well as enzymes with defects responsible for neuromuscular disorders, have been identified during the past two decades, allowing a more specific and firm diagnosis of muscle diseases. Identification of protein defects relies predominantly on immunohistochemical preparations and on Western blot analysis. While immunohistochemistry is very useful in identifying abnormal expression of primary protein abnormalities in recessive conditions, it is less helpful in detecting primary defects in dominantly inherited disorders. Abnormal immunohistochemical expression patterns can be confirmed by Western blot analysis which may also be informative in dominant disorders. Besides identification of specific protein defects, immunohistochemistry is also helpful in the differentiation of inflammatory myopathies by subtyping cellular infiltrates and demonstrating up-regulation of subtle immunological parameters. This review will summarize and describe the impact that histochemistry and immunohistochemistry has had and the possibilities it has opened up in the diagnosis of neuromuscular disorders in human as well as in veterinary myology

Histochemical and immunohistological approach to comparative neuromuscular diseases.

The broad category of neuromuscular diseases covers conditions that involve the weakness or wasting of the body muscles. These problems may occur in the spinal cord, the peripheral nerves or the muscle fibers. Some may be hereditary, while others are acquired. Commonly recognized conditions fall into the categories of myopathies, which are diseases of the muscle like muscular dystrophy, disorders of the junction where the nerve impulses are transmitted to the muscle like myasthenia gravis, and neuropathies, which are diseases of the peripheral nervous system. The diagnosis of most neuromuscular diseases rest on careful clinical evaluation of the patient, electromyography, the muscle biopsy, and in some instances, molecular genetic studies. Muscle biopsy, associated to histochemical and immunohistological techniques, plays a key role in diagnosis of many neuromuscular disorders. A number of morphological abnormalities of muscle can be recognized on histological stains such as haematoxylin and eosin and Engel trichrome. Histochemical techniques are essential for the study of muscle biopsies for four main reasons. First, they demonstrate the non-uniform nature of the muscle highlighting the different biochemical properties of specific fibre type and their selective involvement in certain disease processes. Second, they may show an absences of a particular enzyme. Third, an excess of a particular substrate can be demonstrated. Fourth, they may show structural changes in the muscle which would not be apparent with routine histological stains, such as the enzyme-deficient cores in central core disease "mouth-eaten" fibers, and abnormalities in the distribution of mitochondria. In some neuromuscular disorders there could be only non-specific myopathological features. However, a number of proteins, including sarcolemmal, sarcomeric, and nuclear proteins as well as enzymes with defects responsible for neuromuscular disorders, have been identified during the past two decades, allowing a more specific and firm diagnosis of muscle diseases. Identification of protein defects relies predominantly on immunohistochemical preparations and on Western blot analysis. While immunohistochemistry is very useful in identifying abnormal expression of primary protein abnormalities in recessive conditions, it is less helpful in detecting primary defects in dominantly inherited disorders. Abnormal immunohistochemical expression patterns can be confirmed by Western blot analysis which may also be informative in dominant disorders. Besides identification of specific protein defects, immunohistochemistry is also helpful in the differentiation of inflammatory myopathies by subtyping cellular infiltrates and demonstrating up-regulation of subtle immunological parameters. This review will summarize and describe the impact that histochemistry and immunohistochemistry has had and the possibilities it has opened up in the diagnosis of neuromuscular disorders in human as well as in veterinary myology

Morphological characterisation of malignant histiocytosis in a cat

Malignant histiocytosis (MH) is a progressive systemic neoplastic proliferation of morphologically atypical histiocytes, well characterised in humans and dogs but only recently identified in the cat. In all species, liver, lung, lymph nodes, spleen and bone marrow are infiltrated by atypical histiocytes, and the disease is rapidly fatal. The purpose of this study was to describe the clinical, histological, immunohistochemical and ultrastructural findings of MH in a cat, together with the diagnostic work-up and a list of differential diagnoses. Clinical evaluation included a complete blood-cell count, serum biochemistry, urinalysis, serology and ultrasound examination. The cat had clinical signs of depression, thinness, dehydration, pale mucous membranes and tachycardia. Abdominal ultrasonography revealed generalised splenomegaly and hepatomegaly. Necroscopy showed whitish nodules, randomly scattered throughout the parenchyma in the spleen and liver. The periportal lymph nodes were greatly enlarged and the cut surface was uniformly greyish-white and translucent. Histological examination revealed pleomorphic proliferation of large round tumour cells, with numerous phagocytic vacuoles containing erytrocytes, leukocytes and haemosiderin. By immunohistochemistry, positivity for lysozyme and α1-antitrypsin and a scattered positivity for Mac 387 were observed. Ultrastructural features of tumour cells included cytoplasmic lipid droplets, lysosomes and phagolysosomes. MH in the cat needs to be differentiated from diffuse granulomatous disease, non-Hodgkin’s lymphoma and Hodgkin’s-like disease. The morphological features of the tumour cells, combined with immunohistochemical and ultrastructural observation, are consistent with a diagnosis of MH in the cat

Laparoscopic fowler-stephens orchidopexy for intra-abdominal cryptorchid testis: A single institution experience

Fowler-Stephens Laparoscopic Orchiopexy (FSLO) permits the mobilization of Intra-Abdominal Testis (IAT) to the scrotal position after spermatic vessel ligation. We reported our experience of FSLO for IAT. The charts of all boys who underwent a FSLO were retro-spectively reviewed. Data were analysed for demographic data, pro-cedure, complications and follow-up results. From January 2008 to June 2016, 160 laparoscopies for Non Palpable Testis (NPT) were performed at a mean age of 3,2 years. 61% of patients had a right NPT, while 6% were bilateral. In 64 cases, an IAT was found: 20 were managed by FSLO with a two-stage procedure in 11 patients. There were no differences in hospitalisations; one patient had a pro-longed ileus. Follow-up ranged from 1 to 8 years. Of the 20 patients who underwent FSLO, testicular atrophy developed in three; the remaining testes were in the scrotal position, with normal consisten-cy. FSLO was applied in 31% of IAT. The overall success rate of the technique was 85 %. The percentage of atrophy associated after spermatic vessels interruption appears to provide a good chance of testicular survival

Risk Factors of Cholelithiasis Unrelated to Hematological Disorders in Pediatric Patients Undergoing Cholecystectomy

Background: Pediatric cholelithiasis unrelated to hematological disorders is an increasing disease. We analyzed our experience in the surgical treatment of these cases to evaluate risk factors, clinical presentation, intervention and follow-up. Methods: From January 2010 to December 2016, we retrospectively recorded all data (hematological study, familiarity, use of lithogenic drugs and parenteral nutrition) of cholecystectomies for cholelithiasis not related to hematological diseases. The body mass index (BMI) was calculated (obesity if > 25), medical treatment, surgery and follow-up were evaluated. All patients underwent ultrasound for diagnosis and major biliary tract assessment prior to surgery. All patients had a 1-year follow-up. Results: There were twenty-four cases (eight males), with a median age of 11.2 years. Predisposing factors were familiarity in 19, use of lithogenic drugs in 5 and total parental nutrition (TPN) in 3. Median BMI was 19.8 kg/m2, with BMI > 25 kg/m2 in eight cases. Regarding the clinical presentation, 14 had acute pain in the right upper quadrant, 5 had cholecystitis and 5 had non-specific abdominal pain. The medical treatment lasted 6 months in all, except for five (three operated after 2 months and two after 12 months). Preoperative ultrasound did not show stones in the biliary tract. MRI was performed in three cases for suspected malformation of the biliary tract (negative). Laparoscopic cholecystectomy was performed in all cases: mean intervention time was 95 min. A case of postcolecystectomy syndrome was found. At follow-up, all were asymptomatic, except two (recurrent abdominal pain). Conclusion: Main predisposing factors are familiarity and obesity. Preoperative ultrasound in our series replaced the intraoperative study of the biliary tract. Laparoscopic cholecystectomy is the gold standard

The “Dark Side” of Pneumoperitoneum and Laparoscopy

Laparoscopic surgery has been one of the most common procedures for abdominal surgery at pediatric age during the last few decades as it has several advantages compared to laparotomy, such as shorter hospital stays, less pain, and better cosmetic results. However, it is associated with both local and systemic modifications. Recent evidence demonstrated that carbon dioxide pneumoperitoneum might be modulated in terms of pressure, duration, temperature, and humidity to mitigate and modulate these changes. *e aim of this study is to review the current knowledge about animal and human models investigating pneumoperitoneum-related biological and histological impairment. In particular, pneumoperitoneum is associated with local and systemic inflammation, acidosis, oxidative stress, mesothelium lining abnormalities, and adhesion development. Animal studies reported that an increase in pressure and time and a decrease in humidity and temperature might enhance the rate of comorbidities. However, to date, few studies were conducted on humans; therefore, this research field should be further investigated to confirm in experimental models and humans how to improve laparoscopic procedures in the spirit of minimally invasive surgerie

Can Infant Dyschezia Be a Suspect of Rectosigmoid Redundancy?

Infant dyschezia is a functional gastrointestinal disorder that occurs in children less than nine months of age. This disorder causes much anxiety among parents who consult different physicians when suspecting major intestinal problems. The aim of this study is to verify whether infant dyschezia involves an anatomic abnormality (redundancy) of the colon. In this retrospective study (48 months) we analyzed all the children younger than 9 months who came to our attention through the suspicion of gastrointestinal abnormality (Hirschsprung’s disease, anorectal malformations, colonic disorders or constipation). They all had a complete medical history, clinical examination and diagnostic tests, such as blood samples, suction rectal biopsy, a study of stool characteristics and, finally, a contrast enema. In cases with infant dyschezia, different colonic sizes and rectosigmoid length were measured, which created a ratio with the diameter of the second lumbar vertebra. These values were compared with those reported in the literature as normal for the age of one year. Of the 24 patients evaluated (mean age 4 months), 9 were excluded for different diagnoses (aganglionic megacolon, hypothyroidism, constipation). The comparison of the ratios obtained in the remaining 15 cases showed a significantly higher rectosigmoid length (redundancy) in children with dyschezia, 18.47 vs. 9.75 (p < 0.001). The rectosigmoid redundancy, a congenital anomaly already reported as a cause of refractory constipation, may be present in children with infant dyschezia

Transanal protrusion of intussusception can be sign of Waugh syndrome

Intussusception rarely occurs with transanal prolapse of intussusception (TAPI), this presentation may be a sign of Waugh's syndrome (WS), an association between intestinal malrotation and intussusception. The authors present the case of infant with an episode of TAPI, resolved with air enema, who required later diagnostic tests that showed the presence of WS, for which surgery was required after the resolution of the intussusception. At now we found only 72 cases reported of WS and some of them clinically presented with TAPI. In our opinion, patients with this type of presentation require a thorough radiological study of the intestine to rule out intestinal malrotations