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short-term study, Amoasii et al. tested this strategy in a dog
yielded promising results in mouse models of DMD. In a small,
CRISPR-Cas9 can correct disease-causing mutations and has
in skeletal and heart muscle. The gene editing technology
7/13 (53.8)
expression of dystrophin, an essential structural protein
The disease is caused by mutations that reduce or prevent
5/8 (62.5)
progressive muscle weakness and a shortened life span.
19/28 (67.8)
Duchenne muscular dystrophy (DMD) is characterized by
(%)
gene editing and muscular dystrophy
Sensitivity
and 82%, respectively. The results were thus not much differ-
pathology in all groups of patients and were found to be 63%
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on antiretroviral therapy who began receiving an antibody
(FNB) was tested separately for identifiable lymphoma
colleagues studied a small cohort of HIV-infected individuals
The sensitivity and specificity of the fine needle biopsy
approved therapy for inflammatory bowel disease. uzzan and
of patients in these two groups.
tested in simian immunodeficiency virus models and is an
did not reach statistical significance due to the small numbers
targeting cells expressing the integrin α4β7, which has been
tive rate of 28.5% and a false negative rate of 27%. The results
T cells in the gastrointestinal tract. One approach may be
lymphoma were 62.5% and 80%, respectively, with a false posi-
patients likely requires disrupting the reservoir of infected
specificity of percutaneous biopsy for diagnosis of recurrence of
Eradicating human immunodeficiency virus (HIV) in infected
of lymphoma in only five patients (71.4%). The sensitivity and
gut check for a promising HIV treatment
rence of lymphoma. Surgical biopsy confirmed the diagnosis
ous biopsy. In seven patients (22%), the biopsy revealed a recur-
phoma. Eighteen of these patients (58%) underwent percutane-
Overall, 31 patients (26.3%) had a previous history of lym-
negative rate in 46% of patients.
70%, respectively, with a false positive rate in 30% and a false
for examination due to lymphadenopathy only, were 53.8% and
ous biopsy for diagnosis of lymphoma, in patients who were sent
(35% of all patients). The sensitivity and specificity of percutane-
result of lymphoma from excisional biopsy occurred in 18 cases
due to lymphadenopathy only. Of this group, a histological
Fifty-four patients (46%) were referred for surgical biopsy
false negative rate in 32% (9/28) of patients [Table 4]
79%, respectively, with a false positive rate in 21% (5/24) and
nosis of lymphoma in all subgroups of patients were 67.8% and
The sensitivity and specificity of percutaneous biopsy for diag-
SEnSITIVITy AnD SpECIfICITy
granulomatous inflammation (nondiagnostic), toxoplasmosis
foreign body reaction, abscess, infectious mononucleosis, cat scratch disease,
*sarcoidosis, toxoplasmosis, systemic lupuserythematosus lymphadenopathy,
Total leukemia
Non-diagnostic
Metastatic lymphadenopathy
Tuberculous lymphadenitis
Specific nontuberculous lymphadenitis*
Nonspecific lymphadenopathy
Lymphoma
Diagnosis
Table 3. Histology of surgical lymph node biopsy
Case CommuniCations Case CommuniCations Science 2018; 362: 86 Sci Transl Med 2018; 10: eaau4711 Dermatol Clin 2013; 31 (3): 427-35. such as pyoderma gangrenosum? A commentary. syndromes teach about common cutaneous diseases 2017; 2017: e5124354. and review of literature. Can J Gastroenterol Hepatol abscesses and inflammatory bowel disease: two cases literature. Medicine (Baltimore) 2007; 86 (3): 145-61. inflammatory bowel disease and review o
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to the tubule-interstitial compartment, De Boer et al. [2] reviewed the existing and University of Turin, Turin ASL T02, Italy 2. Grisham JR, Norberg MM. Compulsive hoarding: current controversies and new Families in Society 2000; 81 (1): 66-75
but interstitial and membranous nephritis literature addressing the effectiveness of email: dario.roccatello@unito.it directions. Dialogues in Clin Neurosci 2010; 12 (2): 233-40. 12. Cromer KR, Schmidt NB, Murphy DL. Do traumatic events influence the clinical
without any evidence of granuloma has implant removal as an effective option for 3. Kellermann NPF. The long-term psychological effects and treatment of Holocaust expression of compulsive hoarding? Behav Res Ther 2007; 45 (11): 2581-92.
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review of the recent literature. Int Psychogeriatr 2017; 29 (7), 1077-84.
courses of glucocorticosteroids and immu- silicone breast implant appeared to be effec- 1. Shoenfeld Y, Agmon-Levin N. ‘ASIA’ – autoimmune/ and Psychotherapy 2010; 2: 61-9. 14. Cath DC, Nizar K, Boomsma D, Mathews CA. Age-specific prevalence of hoarding
nosuppressants, patient 1 chose to have the tive in about 75% of patients and autoim- inflammatory syndrome induced by adjuvants. 5. Tolin DF, Meunier SA, Frost RO, Steketee G. Depress anxiety course of compulsive and obsessive compulsive disorder: a population-based study. Am J Geriatr
J Autoimmun 2011; 36: 4-8.
breast implants removed, while patient 2 mune diseases improved in approximately 2. Maijers MC, de Blok CJ, Niessen FB, et al. Women hoarding and its relationship to life events. Depress Anxiety 2010; 27 (9): 829-38. Psychiatry 2017; 25 (3): 245-55.
chose not to. Both of them had good overall 56%. However, removal had to be combined with silicone breast implants and unexplained 6. Landau D, Iervolinoa A, Pertusaa A, Santoa S, Satwant S, Mataix-Colsa D. 15. Steketee G, Frost R. Compulsive hoarding: current status of the research. Clin
Stressful life events and material deprivation in hoarding disorder. J Anxiety
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clinical response. with immunosuppressive therapy in most systemic symptoms: a descriptive cohort study. Neth Disorders 2011; 25 (2): 192-202. 16. Yehuda R, Bell A, Bierer LM, Schmeidler J. Maternal, not paternal PTSD, is
While the optimal choice still remains patients. Nevertheless, patients should be J Med 2013; 71: 534-40. 7. Neziroglu F, Weissman S, Allen J, McKay D. Compulsive hoarders: how do they related to increased risk for PTSD in offspring of Holocaust survivors. J Psychiatr
to be defined, clinicians should warn informed of the possible consequences of 3. Dagan A, Kogan M, Shoenfeld Y, Segal G. When differ from individuals with obsessive compulsive disorder? Psychiatry Res 2012; Res 2008; 42 (13): 1104-11.
uncommon and common coalesce: adult onset Still’s
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patients that after getting silicone breast the surgery, including body deformity and disease associated with breast augmentation as part 8. Gordon OM, Salkovskis PM, Oldfield VB. Beliefs and experiences in hoarding. 17. Nordsletten AE, Monzani B, Fernández de la Cruz L, et al. Overlap and specificity
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implants, they may present with various, impaired body image, which may have a of autoimmune syndrome induced by adjuvants J Anxiety Disorders 2013; 27 (3): 328-39. of genetic and environmental influences on excessive acquisition and difficulties
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and more often non-specific, symptoms. significant psychological impact. Patients (ASIA). Clin Rheumatol 2016; 35:1643-8. 9. Przeworski A, Cain N, Dunbecka K. Traumatic life events in individuals with Neuropsychiatr Genet 2013; 162B (4): 380-7.
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When attempting to establish whether the should also be informed of the possibility 4. Montalto M, Vastola M, Santoro L, et al. Systemic hoarding symptoms, obsessive-compulsive symptoms, and comorbid obsessive- 18. Ivanov VZ, Mataix-Cols D, Serlachius E, et al. Prevalence, comorbidity and
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breast implants, it is important to rule out literature. Am J Med Sci 2004; 327: 102-4. 10. Eitinger L, Stroem A. Mortality and morbidity after excessive stress. Oslo 19. Ivanov VZ, Nordsletten A, Mataix-Cols D, et al. Heritability of hoarding
other diseases. In an attempt to relieve Correspondence 5. De Boer M, Colaris M, van der Hulst RRWJ, Universitetsforlaget, New York, Humanity Press, 1973. symptoms across adolescence and young adulthood: a longitudinal twin study.
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CMID – Division of Nephrology and Dialysis
breast implants useful in patients with complaints?
has frequently been indicated. Recently, (ERK-net member), St. Giovanni Bosco Hospital Immunol Res 2017; 65 (1): 25-36.
Capsule
Capsule
The benefits of a missing appendix
genetically engineered human cortical spheroid models of tuberous sclerosis
Misfolded α-synuclein is a pathological hallmark of Par- in postmortem brain tissue from PD patients. Furthermore,
Tuberous sclerosis complex (TSC) is a multisystem devel- in the functional allele, the authors showed that mosaic kinson’s disease (PD). Killinger and co-authors reported that α-synuclein derived from the appendix seeded rapid
opmental disorder caused by mutations in the TSC1 or biallelic inactivation during neural progenitor expansion is the human appendix contains an abundance of misfolded aggregation of recombinant α-synuclein in vitro. In two large-
TSC2 gene. Their protein products are negative regulators of necessary for the formation of dysplastic cells and increased α-synuclein and that removal of the appendix decreases the scale epidemiological studies, an appendectomy occurring
mechanistic target of rapamycin complex 1 signaling. Hallmark glia production in three-dimensional cortical spheroids. These risk of developing PD. The appendixes of both individuals with decades before reduced the risk of developing PD.
pathologies of TSC are cortical tubers, which are regions of findings provide support for the second-hit model of cortical PD and healthy individuals contained abnormally cleaved and Sci Transl Med 2018; 10: eaar5280
dysmorphic, disorganized neurons and glia in the cortex that tuber formation and suggest that variable developmental aggregated forms of α-synuclein, analogous to those found Eitan Israeli
are linked to epileptogenesis. To determine the developmental timing of somatic mutations could contribute to the
origin of tuber cells, Blair and colleagues established human heterogeneity in the neurological presentation of TSC.
cellular models of TSC by CRISPR-Cas9-mediated gene editing Capsule
of TSC1 or TSC2 in human pluripotent stem cells (hPSCs). Nature Med 2018; 24: 1568
Using heterozygous TSC2 hPSCs with a conditional mutation Eitan Israeli
Targeted neurotechnology restores walking in humans with spinal cord injury
Spinal cord injury leads to severe locomotor deficits or even stimulation had re-established adaptive control of paralyzed
Capsule complete leg paralysis. wagner and colleagues introduced muscles during over ground walking. Locomotor performance
targeted spinal cord stimulation neurotechnologies that improved during rehabilitation. After a few months, parti-
Combination therapy with anti-HIV-1 antibodies maintains viral suppression enabled voluntary control of walking in individuals who cipants regained voluntary control over previously paralyzed
had sustained a spinal cord injury more than 4 years before muscles without stimulation and could walk or cycle in
Individuals infected with human immunodeficiency virus with antibody-sensitive latent viral reservoirs maintained
(HIV)-1 require lifelong antiretroviral therapy because suppression for between 15 weeks and more than 30 weeks and presented with permanent motor deficits or complete ecological settings during spatiotemporal stimulation. These
interruption of treatment leads to rapid rebound viraemia. (median of 21 weeks) and none developed viruses that were paralysis despite extensive rehabilitation. Using an implanted results establish a technological framework for improving
Mendoza and colleagues reported on a phase 1b clinical resistant to both antibodies. The authors concluded that pulse generator with real-time triggering capabilities, the neurological recovery and supporting the activities of daily
trial in which a combination of 3BNC117 and 10-1074, two the combination of the anti-HIV-1 monoclonal antibodies authors delivered trains of spatially selective stimulation to living after spinal cord injury.
potent monoclonal anti-HIV-1 broadly neutralizing antibodies 3BNC117 and 10-1074 can maintain long-term suppression the lumbosacral spinal cord with timing that coincided with Nature 2018; 563: 65
that target independent sites on the HIV-1 envelope spike, in the absence of antiretroviral therapy in individuals with the intended movement. Within 1 week, this spatiotemporal Eitan Israeli
was administered during analytical treatment interruption. antibody-sensitive viral reservoirs. “There may be times when we are powerless to prevent injustice, but there must never be a
Participants received three infusions of 30 mg/kg −1 of each
PERFECTOR antibody at 0, 3, and 6 weeks. Infusions of the two antibodies Nature 2018; 561: 479 time when we fail to protest”
were generally well-tolerated. The nine enrolled individuals
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Elie Wiesel (1928–2016), Romanian-born American Jewish writer, professor, political activist, Nobel Laureate and Holocaust survivor
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